Article
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Blood - 25 Feb 2016
Ammann Sandra, Schulz Ansgar, Krägeloh-Mann Ingeborg, Dieckmann Nele M G, Niethammer Klaus, Fuchs Sebastian, Eckl Katja Martina, Plank Roswitha, Werner Roland, Altmüller Janine, Thiele Holger, Nürnberg Peter, Bank Julia, Strauss Anne, von Bernuth Horst, Zur Stadt Udo, Grieve Samantha, Griffiths Gillian M, Lehmberg Kai, Hennies Hans Christian, Ehl Stephan
Abstract excerpt
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous...
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