Homozygous PTRHD1 Mutation in IntellectualDisability and Atypical Parkinsonism
dysfunction with both cognitive and motor phenotypes highlights the potential role of the protein in neurodevelopment and neurodegeneration.
Authors
- Aslıhan Tolun (ORCID: https://orcid.org/0000-0002-0328-6046)
- Esra Yıldız Bölükbaşı (ORCID: https://orcid.org/0000-0002-3251-8133)
- Mehreen Afzal (ORCID: https://orcid.org/0000-0002-2179-9259)
- Sara Mumtaz
- Rana M. Kamran Shabbir
- Sajid Malik
Institutions
- Quaid-i-Azam University (PK)
- Rawalpindi Medical University (PK)
- National University of Medical Sciences (PK)
- Rawalpindi Women University
- Boğaziçi University (TR)
- Istanbul Technical University (TR)
Publication Details
- Journal
- The Yale Journal of Biology and Medicine
- Published
- 2026-03-31
- DOI
- https://doi.org/10.59249/ribg4986
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Quaid-i-Azam University
- Boğaziçi Üniversitesi