Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/article/10.1007/s10792-017-0754-5/fulltext.html
Reference16 articles.
1. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG (2004) Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 36(4):411–416. doi: 10.1038/ng1321
2. Huynh KD, Fischle W, Verdin E, Bardwell VJ (2000) BCoR, a novel corepressor involved in BCL-6 repression. Genes Dev 14(14):1810–1823
3. Wamstad JA, Corcoran CM, Keating AM, Bardwell VJ (2008) Role of the transcriptional corepressor Bcor in embryonic stem cell differentiation and early embryonic development. PLoS ONE 3(7):e2814. doi: 10.1371/journal.pone.0002814
4. Gorlin RJ, Marashi AH, Obwegeser HL (1996) Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet 63(1):290–292. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290:AID-AJMG47>3.0.CO;2-G
5. Zhu X, Dai FR, Wang J, Zhang Y, Tan ZP (2015) Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome. Gene 571(1):142–144. doi: 10.1016/j.gene.2015.07.061
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1. Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome;American Journal of Ophthalmology Case Reports;2024-06
2. Oculo-facio-cardio-dental (OFCD) syndrome: a case report;Journal of Medical Case Reports;2024-01-04
3. Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series;European Journal of Ophthalmology;2023-05-08
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. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report;BMC Pediatrics;2022-02-07
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