Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families
WES detected a diagnostic molecular abnormality in 85% of families with HR phenotypes; <i>PHEX</i> variants were the most common. Combined use of WES and pedigree analysis highlighted the underdiagnosis of adult XLH in this population, with most family members being diagnosed after the pedigree analysis.
Authors
- Mohamed H. Al‐Hamed (ORCID: https://orcid.org/0000-0002-7207-6122)
- Sarah Bakhamis
- Afaf Alsagheir (ORCID: https://orcid.org/0000-0002-1844-4377)
- Sara I Abdelfattah
Institutions
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
Publication Details
- Journal
- Journal of the Endocrine Society
- Published
- 2024-11-18
- DOI
- https://doi.org/10.1210/jendso/bvae203
- Citations
- 1
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.34
Funders
- King Faisal Specialist Hospital and Research Centre