Article
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Molecular genetics and genomics : MGG - 1 Apr 2017
Sukumaran Salil K, Stumpf Maria, Salamon Sarah, Ahmad Ilyas, Bhattacharya Kurchi, Fischer Sarah, Müller Rolf, Altmüller Janine, Budde Birgit, Thiele Holger, Tariq Muhammad, Malik Naveed Altaf, Nürnberg Peter, Baig Shahid Mahmood, Hussain Muhammad Sajid, Noegel Angelika A
Abstract excerpt
Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in brain size but with normal architecture. It is often linked to mutations in genes coding for centrosomal proteins; however, their role in brain size regulation is not completely understood. By combining homozygosity mapping and whole-exome sequencing in an MCPH family from Pakistan, we identified a novel mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.