A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Ali S AlzahraniMeshael AlswailemBassam Bin AbbasEbtesam QasemAfaf AlsagheirAzza Al ShidhaniAisha Al SinaniMaryam Al BadiAli Al-MaqbaliManal Al ShawiAbdulhameed AlbunyanAbdulghani Bin NafisahYufei Shi

Published in: Journal of the Endocrine Society (2021)

We characterized a unique genotype of PHA 1b with several novel gene structure-disrupting mutations in SCNN1A, SCNN1B, and SCNN1G in a highly consanguineous population.

Keyphrases

copy number
gene expression
dna methylation