Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability ( <scp>DD</scp> / <scp>ID</scp> ), Epilepsy and the First Turkish Patient Diagnosed With <scp>BCL11A</scp> ‐Related Intellectual Disability
The cases we present contribute to the expansion of the spectrum of genetic variants in genetically heterogeneous patient groups such as DD/ID and epilepsy. These previously unreported variants advance our molecular understanding and broaden the clinical spectrum of these rare genetic disorders.
Authors
- İbrahim Barış (ORCID: https://orcid.org/0000-0003-2185-3259)
- Seda Güneysu
- Nejmiye Akkuş (ORCID: https://orcid.org/0000-0002-5801-534X)
- Pakize Düzgün (ORCID: https://orcid.org/0009-0003-3432-3887)
- Erkan Gokce
- Abdullah Canbal
Institutions
- Koç University (TR)
- Tokat Gaziosmanpaşa Üniversitesi (TR)
- State Hospital (GB)
- Tokatsu Hospital (JP)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1002/mgg3.70180
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00