A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy
These patients underscore the importance of recognizing novel clinical features associated with the <i>HERC2</i> LoF variants, which can guide disease characterization and patient management.
Authors
- Uluç Yiş
- Hüseyin Bahadır Şenol (ORCID: https://orcid.org/0000-0002-8746-8372)
- Çağatay Günay (ORCID: https://orcid.org/0000-0001-7860-6297)
- Semra Hız Kurul (ORCID: https://orcid.org/0000-0002-8020-4884)
- Adem Aydın (ORCID: https://orcid.org/0000-0002-8480-2857)
- Ayşe İpek Polat
Institutions
- Siirt Üniversitesi (TR)
- Dokuz Eylül University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-12-10
- DOI
- https://doi.org/10.1159/000543054
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00