A Novel Biallelic Variant in <scp><i>IHH</i></scp> Causing Acrocapitofemoral Dysplasia in a Pakistani Family
This study reports the first case of ACFD from Pakistan and identifies the fourth novel missense variant in the IHH gene that led to the broadening of the phenotypic and genotypic spectrum of ACFD.
Authors
- Naveed Wasif (ORCID: https://orcid.org/0000-0002-3455-8833)
- Saadullah Khan (ORCID: https://orcid.org/0000-0001-5037-1473)
- Tanveer Saeed (ORCID: https://orcid.org/0000-0003-4434-3710)
- Ashfaq Ahmad (ORCID: https://orcid.org/0000-0002-7639-2472)
- Nousheen Bibi (ORCID: https://orcid.org/0000-0001-8399-0932)
- Muhammad Ansar (ORCID: https://orcid.org/0000-0001-5891-7063)
- Umme Kalsoom (ORCID: https://orcid.org/0000-0002-6842-3558)
Institutions
- Shaheed Benazir Bhutto Women University Peshawar (PK)
- Quaid-i-Azam University (PK)
- Kohat University of Science and Technology (PK)
- Universität Ulm (DE)
- Hazara University (PK)
- University Hospital Schleswig-Holstein (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70085
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00