Associated Papers
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
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
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
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