المؤلفون: Esquiaveto-Aun AM; Graduate Program in Child and Adolescent Health, Faculty of Medical Sciences (FCM), UNICAMP, Campinas, São Paulo, Brazil., de Mello MP; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Guaragna MS; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., da Silva Lopes VLG; Department of Translational Medicine, Medical Genetics and Genomic Medicine, Faculty of Medical Sciences (FCM), UNICAMP, Campinas, São Paulo, Brazil., Francese-Santos AP; Department of Translational Medicine, Medical Genetics and Genomic Medicine, Faculty of Medical Sciences (FCM), UNICAMP, Campinas, São Paulo, Brazil., Dos Santos Cruz Piveta C; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Mazolla TN; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., de Lemos-Marini SHV; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Pediatrics, Faculty of Medical Sciences (FCM), UNICAMP, Campinas, São Paulo, Brazil., Guerra-Junior G; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Pediatrics, Faculty of Medical Sciences (FCM), UNICAMP, Campinas, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63536. Date of Electronic Publication: 2024 Jan 19.

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

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: Adrenal Insufficiency*/genetics , Adrenal Insufficiency*/pathology , Adrenal Insufficiency*/diagnosis , Adrenal Insufficiency*/congenital , DAX-1 Orphan Nuclear Receptor*/genetics, Child, Preschool ; Humans ; Male ; Follow-Up Studies ; Genetic Association Studies/methods ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Genetic Diseases, X-Linked/diagnosis ; Hypoadrenocorticism, Familial/genetics ; Mutation/genetics ; Phenotype ; Infant, Newborn ; Adolescent

SCR Disease Name: Adrenal Insufficiency, Congenital