Associated Papers
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
Asif M et al.
Cells, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
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
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H et al.
Journal of Medical Genetics, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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
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