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Last Updated: 10/31/2025
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Found 56 publications
Human Genetics of Ventricular Septal Defect.
Journal: Advances in experimental medicine and biology
Published: June 17, 2024
Hepatoblastoma in a 13-Month-old Male With Oculofaciocardiodental Syndrome.
Journal: Journal of pediatric hematology/oncology
Published: February 11, 2024
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome.
Journal: American journal of ophthalmology case reports
Published: December 06, 2023
Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1.
Journal: Journal of oral biosciences
Published: September 11, 2023
Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.
Journal: Dentistry journal
Published: August 29, 2023
Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.
Journal: European journal of ophthalmology
Published: May 09, 2023
Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: February 28, 2023
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Journal: Human genome variation
Published: February 28, 2023
Oculo-facio-cardio-dental (OFCD) syndrome: a case report.
Journal: Journal of medical case reports
Published: July 05, 2022
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.
Journal: European journal of human genetics : EJHG
Published: December 11, 2021
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
Journal: Frontiers in genetics
Published: December 06, 2021
Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report.
Journal: Case reports in dentistry
Published: October 19, 2021
Last Updated: 10/31/2025