Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

Björn Fischer, Bert Callewaert, Phillipe Schröter, Paul J. Coucke, Claire Schlack, Claus Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Eva Morava, Anna Ficcadenti, Uwe Kornak

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