Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population

The molecular genetics of 1α-hydroxylase deficiency in Saudi Arabia is unique with several novel mutations of different types and a possible founder mutation.

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Publication Details

Journal
Journal of the Endocrine Society
Published
2025-11-14
DOI
https://doi.org/10.1210/jendso/bvaf183
Primary Topic
Sexual Differentiation and Disorders
Type
article
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article

Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population

Ahmed Nahari, Adnan Al Shaikh, Somaya Alzelaye, Fahad Al Juraibah et al.
Journal of the Endocrine Society
Sexual Differentiation and Disorders
article

Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population

Ahmed Nahari, Adnan Al Shaikh, Somaya Alzelaye, Fahad Al Juraibah, Abdulhameed Albunyan, Afaf Alsagheir, Balgees Alghamdi, Bassam Bin‐Abbas, Abdullah Alshahrany, Ali Saeed Alzahrani, Allianah D. Benito, Noman Ahmad, Yufei Shi, Amer Omar Alali, Najya Abdullah Attia, Khloud M Alrubaya, Nabilah Sulaimani
article en

Abstract

The molecular genetics of 1α-hydroxylase deficiency in Saudi Arabia is unique with several novel mutations of different types and a possible founder mutation.

Journal of the Endocrine SocietyVol. 10(2)
Al-Quds Open University (PS), King Saud bin Abdulaziz University for Health Sciences (SA), King Faisal Specialist Hospital & Research Centre (SA), Maternity and Children's Hospital (SA), Armed Forces Hospital (SA), Dammam Central Hospital (SA), National Guard Health Affairs (SA), Jazan University (SA)
Openalex Percentile: Top 69%
Sexual Differentiation and Disorders
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Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population — Ahmed Nahari, Adnan Al Shaikh, et al. · Journal of the Endocrine Society (2025) | TGRS Research Map | TGRS