A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-022-01195-7.pdf
Reference12 articles.
1. Wilkie AO, Taylor D, Scambler PJ, Baraitser M. Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? Clin Dysmorphol. 1993;2:114–9.
2. Obwegeser HLGR. Oculo-facio-cardio-dental (OFCD) syndrome. Clin Dysmorphol. 1997;6:281–3.
3. Ng D, Thakker N, Corcoran CM, Donnai D, Parvin R, Schneider A, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004;36:411–6.
4. Hedera P, Gorski JL. Rapid publication oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet. 2003;123:261–6.
5. Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy SKK. Evidence of germline mosaicism for a novel BCOR mutation in two indian sisters with oculo-facio-cardio-dental syndrome. Mol Syndr. 2014;5:251–6.
Cited by 2 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. 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. New year, new genes;European Journal of Human Genetics;2023-01
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