Article
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Human molecular genetics - 15 Nov 2014
Khan Muzammil A, Rupp Verena M, Orpinell Meritxell, Hussain Muhammad S, Altmüller Janine, Steinmetz Michel O, Enzinger Christian, Thiele Holger, Höhne Wolfgang, Nürnberg Gudrun, Baig Shahid M, Ansar Muhammad, Nürnberg Peter, Vincent John B, Speicher Michael R, Gönczy Pierre, Windpassinger Christian
Abstract excerpt
Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including three affected individuals from a consanguineous MCPH family from Pakistan, we delineated a critical region of 18.53 Mb on...
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