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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Detalles Bibliográficos
Autores principales: Choi, Han Saem, Kwon, Ahreum, Chae, Hyun Wook, Suh, Junghwan, Song, Kyung Chul, Lee, Jin-Sung, Kim, Ho-Seong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255865/
https://www.ncbi.nlm.nih.gov/pubmed/34218634
http://dx.doi.org/10.6065/apem.2040088.044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255865/
https://www.ncbi.nlm.nih.gov/pubmed/34218634
http://dx.doi.org/10.6065/apem.2040088.044

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