A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome-Reference-Cited by-同舟云学术

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A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

Published:2008-05-14 Issue:10 Volume:16 Page:1176-1186
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bicknell Louise S,Pitt James,Aftimos Salim,Ramadas Ram,Maw Marion A,Robertson Stephen P

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200891.pdf

Reference35 articles.

1. Gupta N, Phadke SR : Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol 2006; 23: 225–230.

2. Tassabehji M, Metcalfe K, Hurst J et al: An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998; 7: 1021–1028.

3. Kaler SG, Gallo LK, Proud VK et al: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 1994; 8: 195–202.

4. 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.

5. 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.

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