Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis-Reference-Cited by-同舟云学术

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Published:2011-02-02 Issue:5 Volume:19 Page:513-519
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hastings Rob,Cobben Jan-Maarten,Gillessen-Kaesbach Gabriele,Goodship Judith,Hove Hanne,Kjaergaard Susanne,Kemp Helena,Kingston Helen,Lunt Peter,Mansour Sahar,McGowan Ruth,Metcalfe Kay,Murdoch-Davis Catherine,Ray Mary,Rio Marlène,Smithson Sarah,Tolmie John,Turnpenny Peter,van Bon Bregje,Wieczorek Dagmar,Newbury-Ecob Ruth

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010234.pdf

Reference11 articles.

1. Bohring A, Silengo M, Lerone M et al: Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 1999; 85: 438–446.

2. Oberklaid F, Danks DM : The Opitz trigonocephaly syndrome. Am J Dis Child 1975; 129: 1348–1349.

3. Addor MC, Stefanutti D, Farron F et al: ‘C’ trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel 1995; 6: 113–120.

4. Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF : Siblings with Bohring–Opitz syndrome. Clin Dysmo 2003; 12: 15–19.

5. Bisgaard A-M, Kirchoff M, Nielsen JE et al: Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants. Eur J Med Genet 2007; 50: 243–255.

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