Oculofaciocardiodental Syndrome Latest Advances

Find the Latest Research About Oculofaciocardiodental Syndrome

Last Updated: 04/28/2026

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Found 57 publications

Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene

Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 06, 2026

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.

Journal: Ophthalmic genetics
Published: November 14, 2025

Human Genetics of Ventricular Septal Defect.

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.

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.

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.

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.

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.

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

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.

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.

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.

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
Showing 1-12 of 57

Last Updated: 04/28/2026