Associated Papers
WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.
Hao L et al.
Clinical and Translational Medicine, 2022
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
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M et al.
Journal of Applied Genetics, 2019
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
Naseer MI et al.
Pakistan Journal of Medical Sciences, 2019
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
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
Banerjee S et al.
Oncotarget, 2016
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI et al.
Annals of Saudi Medicine, 0
Select a paper to view details