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Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs Due to a Novel Homozygous Nonsense Mutation in EFEMP2

Pascaline Letard,Dorien Schepers,Juliette Albuisson,Patrick Bruneval,Emmanuel Spaggiari,Gerarda Van de Beek,Suonavy Khung-Savatovsky,Nadia Belarbi,Yline Capri,Anne-Lise Delezoide,Bart Loeys,Fabien Guimiot

Molecular syndromology（2018）

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关键词
Arterial tortuosity,Autopsy,Autosomal recessive cutis laxa type 1B,Bone fractures,EFEMP2,Elastic tissue,FBLN4,Fetus,Fibulin-4,Prenatal diagnosis
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