Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme,1,25 Thatjana Gardeitchik,2,3,25 Miski Mohamed,2,25 Sergio Guerrero-Castillo,4,5,26 Peter Freisinger,6,26 Brecht Guillemyn,1,26 Ariana Kariminejad,7,26 Daisy Dalloyaux,2,5 Sanne van Kraaij,2,5 Dirk J. Lefeber,5,8 Delfien Syx,1 Wouter Steyaert,1 Riet De Rycke,9,10 Alexander Hoischen,3 Erik-Jan Kamsteeg,3 Sunnie Y. Wong,11 Monique van Scherpenzeel,5,8 Payman Jamali,12 Ulrich Brandt,4,5 Leo Nijtmans,4,5 G. Christoph Korenke,13 Brian H.Y. Chung,14 Christopher C.Y. Mak,14 Ingrid Hausser,15 Uwe Kornak,16,17 Björn Fischer-Zirnsak,16,17 Tim M. Strom,18 Thomas Meitinger,18 Yasemin Alanay,19 Gulen E. Utine,20 Peter K.C. Leung,14 Siavash Ghaderi-Sohi,7 Paul Coucke,1 Sofie Symoens,1 Anne De Paepe,1 Christian Thiel,21 Tobias B. Haack,18,22,23 Fransiska Malfait,1,27 Eva Morava,11,24,27 Bert Callewaert,1,27,* and Ron A. Wevers5,27,*