Growth hormone deficiency in three siblings homozygous for a rare GH1 haplotype
Our findings suggest that this haplotype likely underlies the GH deficiency observed in the affected siblings. This represents the first report linking a homozygous <i>GH1</i> promoter haplotype to IGHD, underscoring the role of noncoding variants in endocrine disease.
Authors
- Omneya Magdy Omar (ORCID: https://orcid.org/0000-0003-1967-8893)
- Ebtesam Abdalla (ORCID: https://orcid.org/0000-0002-2486-8782)
- Manuel C. Lemos (ORCID: https://orcid.org/0000-0001-9326-8900)
- Ana Cláudia Ribeiro
Institutions
- University of Beira Interior (PT)
- Alexandria University (EG)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2026-01-05
- DOI
- https://doi.org/10.3389/fendo.2025.1704842
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 0.00