المؤلفون: Kiener A; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA. alexander.kiener@bcm.edu., Lantin MRL; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Lawrence EJ; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Morris SA; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Sheth SS; Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA.

المصدر: Pediatric cardiology [Pediatr Cardiol] 2024 Jun; Vol. 45 (5), pp. 1154-1156. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/genetics , Elastin*/genetics , Mutation* , Pulmonary Valve Stenosis*/genetics , Pulmonary Valve Stenosis*/diagnostic imaging, Adult ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Ultrasonography, Prenatal

المؤلفون: Zinyandu T; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Knight JH; Department of Epidemiology and Biostatistics, University of Georgia College of Public Health, Athens, Georgia., Thomas AS; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Claxton J; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Montero A; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia., Shaw FR; Department of Cardiothoracic Surgery, Children's Healthcare of Atlanta, Atlanta, Georgia., Kochilas LK; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Children's Healthcare of Atlanta Cardiology, Atlanta, Georgia. Electronic address: lazaros.kochilas@emory.edu.

المصدر: The Annals of thoracic surgery [Ann Thorac Surg] 2024 May; Vol. 117 (5), pp. 965-972. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 15030100R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-6259 (Electronic) Linking ISSN: 00034975 NLM ISO Abbreviation: Ann Thorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/surgery , Aortic Stenosis, Supravalvular*/congenital , Aortic Stenosis, Supravalvular*/mortality, Humans ; Male ; Female ; Infant ; Child, Preschool ; Treatment Outcome ; Child ; Retrospective Studies ; Cardiac Surgical Procedures/methods ; Registries ; Time Factors ; Follow-Up Studies ; Infant, Newborn ; United States/epidemiology ; Survival Rate/trends

المؤلفون: Stephens SB; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX.; Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health The University of Texas Health Science Center Houston TX., Novy T; Division of Community and General Pediatrics, Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center Houston TX., Spurzem GN; University of Washington Medical Center Seattle WA., Jacob B; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Beecroft T; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Soludczyk E; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Kozel BA; Translational Vascular Medicine Branch National Heart, Lung, and Blood Institute, National Institutes of Health Bethesda MD., Weigand J; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX., Morris SA; Section of Cardiology, Department of Pediatrics Baylor College of Medicine, Texas Children's Hospital Houston TX.

المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2024 Apr 16; Vol. 13 (8), pp. e034048. Date of Electronic Publication: 2024 Apr 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/diagnosis , Williams Syndrome*/genetics , Williams Syndrome*/surgery , Aortic Stenosis, Supravalvular*/diagnosis , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/congenital, Humans ; Retrospective Studies ; Genetic Testing ; Aorta

المؤلفون: Ellis MW; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.).; Department of Cellular and Molecular Physiology (M.W.E.), Yale University, New Haven, CT., Riaz M; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Huang Y; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Anderson CW; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.).; Department of Pathology (C.W.A., L.D.B., Y.Q.), Yale University, New Haven, CT., Hoareau M; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Li X; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Luo H; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Lee S; Biological and Biomedical Sciences (S.L.), Yale University, New Haven, CT., Park J; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Luo J; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Batty LD; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.).; Department of Pathology (C.W.A., L.D.B., Y.Q.), Yale University, New Haven, CT., Huang Q; Vascular Biology and Therapeutics (Q.H., G.T., Y.Q.), Yale School of Medicine, New Haven, CT., Lopez CA; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.)., Reinhardt DP; Faculty of Medicine, Department of Anatomy and Cell Biology, McGill University, Montreal, Canada (D.P.R.)., Tellides G; Vascular Biology and Therapeutics (Q.H., G.T., Y.Q.), Yale School of Medicine, New Haven, CT.; Department of Surgery (G.T.), Yale School of Medicine, New Haven, CT., Qyang Y; Yale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.), Yale School of Medicine, New Haven, CT.; Vascular Biology and Therapeutics (Q.H., G.T., Y.Q.), Yale School of Medicine, New Haven, CT.; Yale Stem Cell Center, New Haven, CT (M.W.E., M.R., Y.H., C.W.A., M.H., X.L., H.L., J.P., J.L., L.D.B., C.A.L., Y.Q.).; Department of Pathology (C.W.A., L.D.B., Y.Q.), Yale University, New Haven, CT.

المصدر: Arteriosclerosis, thrombosis, and vascular biology [Arterioscler Thromb Vasc Biol] 2024 Jul; Vol. 44 (7), pp. 1674-1682. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505803 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4636 (Electronic) Linking ISSN: 10795642 NLM ISO Abbreviation: Arterioscler Thromb Vasc Biol Subsets: MEDLINE

مواضيع طبية MeSH: Elastin*/metabolism , Catechin*/analogs & derivatives , Catechin*/pharmacology , Disease Models, Animal* , Myocytes, Smooth Muscle*/metabolism , Myocytes, Smooth Muscle*/pathology , Myocytes, Smooth Muscle*/drug effects , Aortic Stenosis, Supravalvular*/metabolism , Aortic Stenosis, Supravalvular*/genetics , Muscle, Smooth, Vascular*/metabolism , Muscle, Smooth, Vascular*/pathology , Muscle, Smooth, Vascular*/drug effects , Cell Proliferation*/drug effects , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/drug effects, Animals ; Humans ; Mice ; Cells, Cultured ; Mice, Inbred C57BL ; Female ; Male ; Mice, Knockout

المؤلفون: Chen R; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Cao JF; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Wang ZJ; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Wang C; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Duan JL; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Li C; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China., Xiao B; Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.

المصدر: Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2024 Mar-Apr; Vol. 52 (3), pp. 315-317. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Subscription Services, Inc Country of Publication: United States NLM ID: 0401663 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0096 (Electronic) Linking ISSN: 00912751 NLM ISO Abbreviation: J Clin Ultrasound Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/complications , Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/surgery , Aortic Valve Insufficiency*/complications , Aortic Valve Insufficiency*/diagnostic imaging , Aortic Valve Insufficiency*/surgery , Aortic Valve Stenosis*, Humans

المؤلفون: Liu D; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Billington CJ Jr; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.; Department of Pediatrics University of Minnesota Minneapolis MN., Raja N; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Wong ZC; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Levin MD; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Resch W; The High Performance Computing Facility Center for Information Technology, National Institutes of Health Bethesda MD., Alba C; Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda MD., Hupalo DN; Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda MD., Biamino E; Department of Pediatrics University of Turin Italy., Bedeschi MF; Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Medical Genetic Unit Milan Italy., Digilio MC; Medical Genetics Department Bambino Gesù Children's Hospital, IRCCS Rome Italy., Squeo GM; Laboratory of Regulatory and Functional Genomics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy., Villa R; Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Medical Genetic Unit Milan Italy., Parrish PCR; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.; Department of Genome Sciences University of Washington Seattle WA., Knutsen RH; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Osgood S; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Freeman JA; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD., Dalgard CL; Department of Anatomy, Physiology and Genetics, School of Medicine the Uniformed Services University of the Health Sciences Bethesda MD., Merla G; Laboratory of Regulatory and Functional Genomics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy.; Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II Naples Italy., Pober BR; Section of Genetics, Department of Pediatrics Massachusetts General Hospital Boston MA., Mervis CB; Department of Psychological and Brain Sciences University of Louisville Louisville KY., Roberts AE; Department of Cardiology and Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital Boston MA., Morris CA; Department of Pediatrics Kirk Kerkorian School of Medicine at UNLV Las Vegas NV., Osborne LR; Departments of Medicine and Molecular Genetics University of Toronto Canada., Kozel BA; National Heart, Lung, and Blood Institute National Institutes of Health Bethesda MD.

المصدر: Journal of the American Heart Association [J Am Heart Assoc] 2024 Feb 06; Vol. 13 (3), pp. e031377. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/genetics , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/metabolism , Aortic Stenosis, Supravalvular*/surgery, Humans ; Genome-Wide Association Study ; Proteomics ; Rare Diseases

المؤلفون: Guariento A; Division of Pediatric Cardiac Surgery, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy., Vida VL; Division of Pediatric Cardiac Surgery, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

المصدر: European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery [Eur J Cardiothorac Surg] 2024 Jan 02; Vol. 65 (1).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Germany NLM ID: 8804069 Publication Model: Print Cited Medium: Internet ISSN: 1873-734X (Electronic) Linking ISSN: 10107940 NLM ISO Abbreviation: Eur J Cardiothorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/diagnostic imaging , Aortic Stenosis, Supravalvular*/surgery , Aortic Valve Stenosis*/surgery, Humans

المؤلفون: Algaze C; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California. Electronic address: calgaze@stanford.edu., Chubb H; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California., Deitch AM; Division of Pediatric Cardiology, Lucile Packard Children's Hospital, Stanford University, Palo Alto, California., Collins T 2nd; Division of Cardiology, Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky.

المصدر: The American journal of cardiology [Am J Cardiol] 2024 Mar 15; Vol. 215, pp. 50-55. Date of Electronic Publication: 2023 Nov 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Excerpta Medica Country of Publication: United States NLM ID: 0207277 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1913 (Electronic) Linking ISSN: 00029149 NLM ISO Abbreviation: Am J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Williams Syndrome*/complications , Williams Syndrome*/diagnosis , Aortic Stenosis, Supravalvular*/complications , Aortic Stenosis, Supravalvular*/diagnosis , Coronary Artery Disease* , Myocardial Ischemia*/diagnosis , Coronary Stenosis*/diagnosis , Vascular Diseases*, Humans ; Male ; Child ; Infant ; Female ; Retrospective Studies ; Elastin ; Electrocardiography

المؤلفون: Meccanici F; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Notenboom ML; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Meijssen J; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Smit V; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., van de Woestijne PC; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., van den Bosch AE; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Helbing WA; Department of Paediatrics, Division of Paediatric Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands., Bogers AJJC; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Takkenberg JJM; Department of Cardiothoracic Surgery, Erasmus University Medical Centre Rotterdam, Netherlands., Roos-Hesselink JW; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, Netherlands.

المصدر: European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery [Eur J Cardiothorac Surg] 2024 Jan 02; Vol. 65 (1).

نوع المنشور: Systematic Review; Meta-Analysis; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Germany NLM ID: 8804069 Publication Model: Print Cited Medium: Internet ISSN: 1873-734X (Electronic) Linking ISSN: 10107940 NLM ISO Abbreviation: Eur J Cardiothorac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Stenosis, Supravalvular*/surgery , Heart Valve Prosthesis Implantation*/adverse effects , Aortic Valve Stenosis*, Child ; Adult ; Humans ; Child, Preschool ; Reoperation ; Constriction, Pathologic/etiology ; Treatment Outcome

المؤلفون: Zhang HY; Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China., Xiao M; Department of Rheumatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430016, China., Zhang Y; Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China. 854804076@qq.com.

المصدر: BMC pediatrics [BMC Pediatr] 2023 Nov 18; Vol. 23 (1), pp. 580. Date of Electronic Publication: 2023 Nov 18.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hernia, Inguinal*/genetics , Stenosis, Pulmonary Artery* , Aortic Stenosis, Supravalvular*/diagnosis , Aortic Stenosis, Supravalvular*/genetics , Aortic Stenosis, Supravalvular*/metabolism, Male ; Child ; Humans ; Infant ; Elastin/metabolism ; Codon, Nonsense ; Mutation