Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

BACKGROUND: Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account for most cases of CAH. The c.145l-1452delGGins...

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Detalles Bibliográficos
Autores principales: Cheng, Tiantian, Liu, Jing, Sun, Wenwen, Song, Guangyao, Ma, Huijuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900299/
https://www.ncbi.nlm.nih.gov/pubmed/35255871
http://dx.doi.org/10.1186/s12902-022-00969-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900299/
https://www.ncbi.nlm.nih.gov/pubmed/35255871
http://dx.doi.org/10.1186/s12902-022-00969-w

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