A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Ítems similars

• A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
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• CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
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• An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
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• CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
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• Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
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