An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole exome sequencing in an Iranian case with high l...

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Detalles Bibliográficos
Autores principales: Kalayinia, Samira, Talebi, Saeed, Miryounesi, Mohammad, Sarkhail, Peymaneh, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687805/
https://www.ncbi.nlm.nih.gov/pubmed/34938333
http://dx.doi.org/10.1155/2021/4367028

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