Coffin–Lowry syndrome-Reference-Cited by-同舟云学术

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Coffin–Lowry syndrome

Published:2009-11-04 Issue:6 Volume:18 Page:627-633
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Marques Pereira Patricia,Schneider Anne,Pannetier Solange,Heron Delphine,Hanauer André

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009189.pdf

Reference38 articles.

1. Coffin GS, Siris E, Wegenkia LC : Mental retardation with osteocartilaginous anomalies. Am J Dis Child 1966; 112: 205–213.

2. Lowry B, Miller J R, Fraser FC : A new dominant gene mental retardation syndrome. Am J Dis Child 1971; 121: 496–500.

3. Temtamy SA, Miller JD, Hussels-Maumenee I : The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. J Pediatr 1975; 86: 724–731.

4. Hanauer A, Young ID : Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002; 39: 705–713.

5. Manouvrier-Hanu S, Amiel J, Jacquot S et al: Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. J Med Genet 1999; 36: 775–778.

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