Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Am J Hum Genet
.
2020 Aug 6;107(2):374.
doi: 10.1016/j.ajhg.2020.07.013.
Authors
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
PMID:
32763190
PMCID:
PMC7413885
DOI:
10.1016/j.ajhg.2020.07.013
No abstract available
Publication types
Published Erratum