Article
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
Molecular biology reports - 26 Jun 2024
Aslam Komal, Saeed Aysha, Saeed Hafiza Iqra, Bashir Rasheeda, Abid Hanna, Akhtar Roeha, Habib Nida, Khan Ramisha, Asif Roha, Rafiq Shereen, Asif Maria, Makhdoom Ehtisham Ul Haq, Hussain Muhammad Sajid, Baig Shahid Mahmood, Anjum Iram
Abstract excerpt
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental and genetically heterogeneous disorder, characterized by small cranium size (> - 3 SD below mean) and often results in varying degree of intellectual disability. Thirty genes have been identified for the etiology of this disorder due to its clinical and genetic heterogeneity. METHODS AND RESULTS: Here, we report two...
Topics
- Humans
- Microcephaly
- Female
- Male
- Pedigree
- Pakistan
- Consanguinity
- Mutation
- Nerve Tissue Proteins
- Neuroimaging