Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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author: Lionel Van Maldergem, Stefan Mundlos, François Foulquier, Zsolt Urban, Peter Nürnberg, Han G. Brunner, Björn Fischer-Zirnsak, Arti Nanda, Jeroen van Reeuwijk, Anna Rajab, Hans van Bokhoven, Eva Morava
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