Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa,The American Journal of Human Genetics

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
The American Journal of Human Genetics Pub Date : 2020-08-06 , DOI: 10.1016/j.ajhg.2020.07.013
Tim Van Damme , Thatjana Gardeitchik , Miski Mohamed , Sergio Guerrero-Castillo , Peter Freisinger , Brecht Guillemyn , Ariana Kariminejad , Daisy Dalloyaux , Sanne van Kraaij , Dirk J. Lefeber , Delfien Syx , Wouter Steyaert , Riet De Rycke , Alexander Hoischen , Erik-Jan Kamsteeg , Sunnie Y. Wong , Monique van Scherpenzeel , Payman Jamali , Ulrich Brandt , Leo Nijtmans , G. Christoph Korenke , Brian H.Y. Chung , Christopher C.Y. Mak , Ingrid Hausser , Uwe Kornak , Björn Fischer-Zirnsak , Tim M. Strom , Thomas Meitinger , Yasemin Alanay , Gulen E. Utine , Kai Ching Peter Leung , Siavash Ghaderi-Sohi , Paul Coucke , Sofie Symoens , Anne De Paepe , Christian Thiel , Tobias B. Haack , Fransiska Malfait , Eva Morava , Bert Callewaert , Ron A. Wevers

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