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

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

Abstract 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...

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Bibliographic Details
Main Authors: Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi
Format: Article
Language:English
Published: BioMed Central 2018-07-01
Series:BMC Medical Genetics
Subjects:
21-hydroxylase deficiency
Mosaicism
Nephrogenic diabetes insipidus
CYP21A2
AQP2
Online Access:http://link.springer.com/article/10.1186/s12881-018-0629-2

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http://link.springer.com/article/10.1186/s12881-018-0629-2

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