Article
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
European journal of human genetics : EJHG - 1 Apr 2018
Bertoli-Avella Aida M, Garcia-Aznar Jose M, Brandau Oliver, Al-Hakami Fahad, Yüksel Zafer, Marais Anett, Grüning Nana-Maria, Abbasi Moheb Lia, Paknia Omid, Alshaikh Nahla, Alameer Seham, Marafi Makia J, Al-Mulla Fahd, Al-Sannaa Nouriya, Rolfs Arndt, Bauer Peter
Abstract excerpt
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independent confirmation. We present three unrelated families in which whole-exome sequencing identified the homozygous non-sense variants c.430[C>T];[C>T] p.(Arg144*),...
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