New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish-Reference-Cited by-同舟云学术

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

Published:2010-05-26 Issue:10 Volume:18 Page:1100-1106
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Morris-Rosendahl Deborah J,Segel Reeval,Born A Peter,Conrad Christoph,Loeys Bart,Brooks Susan Sklower,Müller Laura,Zeschnigk Christine,Botti Christina,Rabinowitz Ron,Uyanik Gökhan,Crocq Marc-Antoine,Kraus Uwe,Degen Ingrid,Faes Fran

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201079.pdf

Reference26 articles.

1. Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U : Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Am J Med Genet A 2004; 128A: 232–234.

2. Graham Jr JM, Hennekam R, Dobyns WB, Roeder E, Busch D : MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A 2004; 128A: 235–245.

3. Warburg M, Sjo O, Fledelius HC, Pedersen SA : Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. Am J Dis Child 1993; 147: 1309–1312.

4. Meira LB, Graham Jr JM, Greenberg CR et al: Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet 2000; 66: 1221–1228.

5. Graham Jr JM, Anyane-Yeboa K, Raams A et al: Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 2001; 69: 291–300.

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