A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort-Reference-Cited by-同舟云学术

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

Published:2013-09-24 Issue:12 Volume:50 Page:819-822
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Elliott Alison M,Simard Louise R,Coghlan Gail,Chudley Albert E,Chodirker Bernard N,Greenberg Cheryl R,Burch Tanya,Ly Valentina,Hatch Grant M,Zelinski Teresa

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?;Ritscher;Am J Med Genet,1987

2. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome);Verloes;Clin Genet,1989

3. Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities;Lauener;Am J Med Genet,1989

4. 3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome;Hoo;Am J Med Genet,1994

5. Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians;Marles;Am J Med Genet,1995

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