A Novel Mutation of <scp>CADHERIN</scp> ( <i>CDH15</i> ) in an Iranian Boy With Borderline Intelligence Without Dysmorphism—A Case Report
This case study presents a case of genetic intellectual disability that has been transmitted from a seemingly normal mother to her son, which exemplifies the occurrence of reduced penetrance of the condition, a mechanism already known to be implicated in the transmission of autosomal dominant neurological conditions.
Authors
- Morteza Heidari (ORCID: https://orcid.org/0000-0002-7487-569X)
- Solmaz Aziz-Ahari
- Shiva Bayat (ORCID: https://orcid.org/0000-0003-4753-8927)
- Ali Rashidi‐Nezhad (ORCID: https://orcid.org/0000-0002-7200-7901)
- Mahmoud Reza Ashrafi (ORCID: https://orcid.org/0000-0001-5483-6549)
- Roya Sinaei (ORCID: https://orcid.org/0000-0001-9029-9330)
- Golazin Shahbodagh Khan (ORCID: https://orcid.org/0000-0002-3206-5728)
- Ali Nikkhah (ORCID: https://orcid.org/0000-0001-9710-0152)
- Zahra Rezaei (ORCID: https://orcid.org/0000-0002-0981-0857)
Institutions
- Imam Khomeini Hospital (IR)
- Children's Medical Center (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/ccr3.71511
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00