Publications:

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

Plos One

Schrauwen, Isabelle I; Szelinger, Szabolcs S; Siniard, Ashley L AL; Kurdoglu, Ahmet A; Corneveaux, Jason J JJ; Malenica, Ivana I; Richholt, Ryan R; Van Camp, Guy G; De Both, Matt M; Swaminathan, Shanker S; Turk, Mari M; Ramsey, Keri K; Craig, David W DW; Narayanan, Vinodh V; Huentelman, Matthew J MJ

Publication Date: 2015

Variant appearance in text: MED16: Val500Met

PubMed Link: 26176221

Variant Present in the following documents:

• Main text
• pone.0131797.pdf

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