Associated Papers
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
Mercan S et al.
Genes & Genomics, 2023
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
Bolat H et al.
Molecular Syndromology, 2022
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH et al.
Genes, 2021
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
33921653 (PubMed )
Supplement: genes-12-00594-s001.zip › genes-1145756-supplementary.pdf
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.
Shohayeb B et al.
Molecular Neurobiology, 2018
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Poulton CJ et al.
American Journal of Medical Genetics. Part A, 2014
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