المؤلفون: Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Otaify GA; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Ismail S; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Ruby MO; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Sadek AA; Department of Pediatric Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt., Ashaat EA; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El Saeidi SA; Department of Pediatric Cardiology, Faculty of Medicine, Cairo University, Cairo, Egypt., Aglan MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Temtamy S; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Dec; Vol. 182 (12), pp. 2857-2866. Date of Electronic Publication: 2020 Sep 19.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Homozygote* , Mutation* , Phenotype*, Blepharophimosis/*genetics , Intellectual Disability/*genetics , Skin Abnormalities/*genetics , Ubiquitin-Protein Ligases/*genetics , Urogenital Abnormalities/*genetics, Blepharophimosis/pathology ; Child ; Child, Preschool ; Egypt ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/pathology ; Male ; Pedigree ; Skin Abnormalities/pathology ; Urogenital Abnormalities/pathology

SCR Disease Name: Blepharophimosis, Ptosis, and Epicanthus Inversus

المؤلفون: El-Saeidi SA; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Hamza HS; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Agha HM; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Soliman MM; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Attia WA; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., El-Kaffas R; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Abdel-Aziz F; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Abdel-Aziz O; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Shaker S; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Esmat A; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Ammar R; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Fattouh A; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., Mohi-Eldin K; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt., El-Sisi AM; Paediatric Department, Cardiology Division, Cairo University, Cairo, Egypt.

المصدر: Cardiology in the young [Cardiol Young] 2020 Apr; Vol. 30 (4), pp. 482-488. Date of Electronic Publication: 2020 Feb 19.

نوع المنشور: Journal Article; Observational Study

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

مواضيع طبية MeSH: Forecasting*, Balloon Valvuloplasty/*methods , Cardiac Catheterization/*methods , Pulmonary Valve/*surgery , Pulmonary Valve Stenosis/*surgery, Child, Preschool ; Cross-Sectional Studies ; Echocardiography ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Pulmonary Valve/diagnostic imaging ; Pulmonary Valve Stenosis/diagnosis ; Retrospective Studies ; Treatment Outcome