A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

Sandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, Janine Altmüller, Holger Thiele, Uzma Abdullah, Syeda Seema Waseem, Abubakar Moawia, Gudrun Nürnberg, Angelika Anna Noegel, Shahid Mahmood Baig, Peter Nürnberg

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27 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology