Associated Papers
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
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Alfares A et al.
Annals of Human Genetics, 2018
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
27761245 (PubMed )
Supplement: CCR3-4-0952-s001.docx
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
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 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
Select a paper to view details