Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population

ABSTRACT Background The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life‐threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited...

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Main Authors: Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
consanguinity
diagnostic yield
exome sequencing
primary adrenal insufficiency
Online Access:https://doi.org/10.1002/mgg3.70052
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