Article
Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.
Clinical genetics - 1 Aug 2026
Tüysüz Beyhan, Çağlayan Ahmet Okay, Kasap Büşra, Uludağ Alkaya Dilek, Güneş Nilay, Kılıç Hüseyin, Saltık Sema, Demirbilek Ahmet Veysi, Koçer Naci, Yalçınkaya Cengiz
Abstract excerpt
Primary hereditary microcephaly (MCPH) comprises a group of genetically heterogeneous disorders characterized by severe microcephaly and mild intellectual disability. It differs from syndromic primary microcephaly (PM) by the lack of syndromic features and major brain malformations. We evaluated the genetic diagnostic yield, pathogenic mechanisms, and clinical features of these two PM groups in 87 patients from...
Topics
- Humans
- Microcephaly
- Female
- Male
- Turkey
- Phenotype
- Child, Preschool
- Child
- Intellectual Disability
- Exome Sequencing
- Mutation
- Genetic Predisposition to Disease
- Pedigree