Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 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?
2. Oculo-facio-cardio-dental (OFCD) syndrome
3. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: Support for X-linked inheritance and paternal X chromosome mosaicism
4. Cuspid gigantism
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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. Oculofaciocardiodental syndrome caused by a novel BCOR variant;Human Genome Variation;2023-06-12
3. Epigenetics of X-chromosome Inactivation;Handbook of Epigenetics;2023
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. Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome;Frontiers in Physiology;2022-07-25
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