Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation-Reference-Cited by-同舟云学术

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

Published:2007-10-31 Issue:1 Volume:16 Page:28-35
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201947.pdf

Reference22 articles.

1. Hashimoto K, Kanzaki T : Cutis laxa. Ultrastructural and biochemical studies. Arch Dermatol 1975; 111: 861–873.

2. Reisner SH, Seelenfreund M, Ben-Bassat M : Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. Acta Paediatr Scand 1971; 60: 357–360.

3. Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z : Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006; 78: 1075–1080.

4. Loeys B, Van Maldergem L, Mortier G et al: Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002; 11: 2113–2118.

5. Biver A, De Rijcke S, Toppet V, Ledoux-Corbusier M, Van Maldergem L : Congenital cutis laxa with ligamentous laxity and delayed development, Dandy–Walker malformation and minor heart and osseous defects. Clin Genet 1994; 45: 318–322.

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