Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

doi:10.1038/sj.ejhg.5201947

Article

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

European journal of human genetics : EJHG - 1 Jan 2008

Morava E, Lefeber D J, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner H G, Wevers R A

Abstract excerpt

Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Abstract excerpt

Topics

Related research