A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Van Asbeck, Ellyze; Wolthuis, David F G J; Mohamed, Miski; Wevers, Ron A; Korenke, Cristoph G; Gardeitchik, Thatjana; Morava, Eva

Van Asbeck, Ellyze; Wolthuis, David F G J; Mohamed, Miski; Wevers, Ron A; Korenke, Cristoph G; Gardeitchik, Thatjana; Morava, Eva.

Affiliation

Van Asbeck E; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana.

Am J Med Genet A ; 164A(4): 1049-55, 2014 Apr.

Article in En | MEDLINE | ID: mdl-24459010

Subject(s)

Cardiomyopathies/genetics; Cataract/genetics; Cutis Laxa/genetics; Adolescent; Body Fat Distribution; Humans; Male; Mutation; Phenotype; Skin Aging/genetics

Key words

abnormal fat distribution; cardiomyopathy; cataract; cutis laxa; failure to thrive; wrinkly skin syndrome

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Cutis Laxa / Cardiomyopathies Type of study: Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2014 Document type: Article

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google