Associated Papers
Identification of CDK5RAP2 as a causative gene of focal epilepsy without microcephaly.
Li X et al.
Seizure, 2025
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
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
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Alfares A et al.
Annals of Human Genetics, 2018
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran SK et al.
Molecular Genetics and Genomics : Mgg, 2017
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
Pagnamenta AT et al.
Clinical Case Reports, 2016
Mutations in CDK5RAP2 cause Seckel syndrome.
Yigit G et al.
Molecular Genetics & Genomic Medicine, 2015
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
Li MH et al.
American Journal of Medical Genetics. Part A, 2015
Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.
Park JS et al.
Plos One, 2015
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
Tan CA et al.
Brain & Development, 2014
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
Issa L et al.
Orphanet Journal of Rare Diseases, 2013
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Pagnamenta AT et al.
American Journal of Medical Genetics. Part A, 2012
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Mahmood S et al.
Orphanet Journal of Rare Diseases, 2011
Primary microcephaly 3 (MCPH3): revisiting two critical mutations.
Park JS et al.
Cell Cycle (georgetown, Tex.), 2011
Novel alternatively spliced variant form of human CDK5RAP2.
Kim T et al.
Cell Cycle (georgetown, Tex.), 2011
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
Hassan MJ et al.
Bmc Medical Genetics, 2007