Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
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B. Fernandez | J. Al-Aama | S. Mundlos | M. Tekin | E. Lemyre | H. Kayserili | R. Wevers | U. Kornak | B. Tuysuz | E. Morava | D. Lefeber | G. Gillessen‐kaesbach | V. Hucthagowder | L. Basel‐Vanagaite | B. Fischer | M. Adamowicz | Jiwon Choi | L. Van Maldergem | S. Türkmen | E. Davis | Z. Urban | D. Abuelo | Aikaterini Dimopoulou | M. Greally | A. Aldinger | Berrin Yüksel-Konuk | G. Gillessen‐Kaesbach | Annika Aldinger
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