Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or autosomal recessive disorder caused by mutations in either...

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Detalles Bibliográficos
Autores principales: Kor, Yılmaz, Zou, Minjing, Al-Rijjal, Roua A., Monies, Dorota, Meyer, Brian F., Shi, Yufei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042323/
https://www.ncbi.nlm.nih.gov/pubmed/29996815
http://dx.doi.org/10.1186/s12881-018-0629-2

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