Associated Papers
A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
Erdogan M et al.
American Journal of Medical Genetics. Part A, 2025
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
Molecular genetics of human primary microcephaly: an overview.
Faheem M et al.
Bmc Medical Genomics, 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