PhenomeGene — Human Disease Gene Website SeriesWDR62

Publications

Kousar et al. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC Neurol. 2011 Oct 1;11:119. doi: 10.1186/1471-2377-11-119. PMID: 21961505.

Mahmood S et al. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet Journal of Rare Diseases. 2011;6: 39. PMID: 21668957.

Zombor et al. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.J Appl Genet. 2019 May;60(2):151-162. PMID: 3070643.

Aryan et al. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Ir J Med Sci. 2022 Dec;191(6):2733-2741. PMID: 35031939.

Bhat et al. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet. 2011 Dec;80(6):532-40. PMID: 21496009.

Slezak et al. Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.Genes (Basel). 2021 Apr 19;12(4):594. PMID: 33921653.