A large-scale mutation search reveals genetic heterogeneity in 3M syndrome-Reference-Cited by-同舟云学术

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Published:2008-10-29 Issue:3 Volume:17 Page:395-400
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Huber Céline,Delezoide Anee-Lise,Guimiot Fabien,Baumann Clarisse,Malan Valérie,Le Merrer Martine,Da Silva Daniela Bezerra,Bonneau Dominique,Chatelain Pierre,Chu Carol,Clark Robin,Cox Helen,Edery Patrick,Edouard Thomas,Fano Virginia,Gibson Kate,Gillessen-Kaesbach Gabriele,Giovannucci-Uzielli Maria-Luisa,Graul-Neumann Luitgard Margarete,van Hagen Johana-Maria,van Hest Liselot,Horovitz Dafne,Melki Judith,Partsch Carl-Joachim,Plauchu Henry,Rajab Anna,Rossi Massimiliano,Sillence David,Steichen-Gersdorf Elisabeth,Stewart Helen,Unger Sheila,Zenker Martin,Munnich Arnold,Cormier-Daire Valérie

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008200.pdf

Reference17 articles.

1. Spranger J, Opitz JM, Nourmand A : A new familial intrauterine growth retardation syndrome the ‘3M syndrome’. Eur J Pediatr 1976; 123: 115–124.

2. Winter RM, Baraitser M, Grant DB, Preece MA, Hall CM : The 3M syndrome. J Med Genet 1984; 21: 124–128.

3. Hennekam RC, Biljlsma JB, Spranger J : Further delineation of the 3M syndrome with review of the literature. Am J Med Genet 1987; 28: 195–209.

4. Mueller RF, Buckler J, Arthur R et al: The 3-M syndrome: risk of intracerebral aneurysm ? J Med Genet 1992; 29: 425–427.

5. Van der Wal G, Otten BJ, Brunner HG, Van der Burgt I : 3M syndrome: description of 6 new patients with review of the literature. Clin Dysmorphol 2001; 10: 241–252.

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