Defective protein glycosylation in patients with cutis laxa syndrome

Author:

Morava Eva,Wopereis Suzan,Coucke Paul,Gillessen-Kaesbach Gabrielle,Voit Thomas,Smeitink Jan,Wevers Ron,Grünewald Stephanie

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. de Schepper S, Loeys B, de Paepe A, Lambert J, Naeyaert JM : Cutis laxa of the autosomal recessive type in a consanguineous family. Eur J Dermatol 2003; 13: 529–533.

2. Markova D, Zou Y, Ringpfeil F et al: Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet 2003; 72: 998–1004.

3. 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.

4. Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM : Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem 1998; 74: 981–986.

5. Andiran N, Sarikayalar F, Saraclar M, Caglar M : Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. Pediatr Dermatol 2002; 19: 412–414.

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