A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Author:
Affiliation:
1. Department of Pediatrics, Daegu Fatima Hospital, Daegu, Korea
2. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2017/014/JGM014-01-05.pdf
Reference13 articles.
1. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients
2. Clinical and Functional Effects of Mutations in theDAX-1Gene in Patients with Adrenal Hypoplasia Congenita1
3. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report
4. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
5. Diagnosis and therapy surveillance in Addison's disease: rapid adrenocorticotropin (ACTH) test and measurement of plasma ACTH, renin activity, and aldosterone.
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1. A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita;Annals of Pediatric Endocrinology & Metabolism;2024-06-30
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