NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome-Reference-Cited by-同舟云学术

NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

Published:2013-04-05 Issue:2 Volume:85 Page:194-197
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Feberwee H.E.,Feenstra I.¹,Oberoi S.,Sama I.E.,Ockeloen C.W.¹,Clum F.²,Slavotinek A.,Kuijpers M.A.R.,Dooijes D.³,Kuijpers-Jagtman A.M.,Kleefstra T.¹,Carels C.E.L.

Affiliation:

1. Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands

2. Department of Pediatrics; University of California; San Francisco CA USA

3. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?;Aalfs;Clin Dysmorphol,1996

2. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients;Schulze;Am J Med Genet,1999

3. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR;Ng;Nat Genet,2004

4. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome;Horn;Eur J Human Genet,2005

5. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination;Hilton;Hum Mol Genet,2007

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel frameshift variant in BCOR causes congenital nuclear cataract;Ophthalmic Genetics;2024-07-03

2. Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1;Journal of Oral Biosciences;2024-03

3. BCOR variants are associated with X-linked recessive partial epilepsy;Epilepsy Research;2022-11

4. A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts;European Journal of Human Genetics;2022-10-20

5. Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report;Case Reports in Dentistry;2022-03-29