Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our...

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Bibliographic Details
Published in:Ann Pediatr Endocrinol Metab
Main Authors: Choi, Han Saem, Kwon, Ahreum, Chae, Hyun Wook, Suh, Junghwan, Song, Kyung Chul, Lee, Jin-Sung, Kim, Ho-Seong
Format: Artigo
Language:Inglês
Published: Korean Society of Pediatric Endocrinology 2021
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8255865/
https://ncbi.nlm.nih.gov/pubmed/34218634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2040088.044
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