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Article

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome

19 Jul 2015

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26196063
DOI: 10.1016/j.gene.2015.07.061

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Related research

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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndromePMID 26196063Read ↗

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.Semantic proximity Read ↗

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.Semantic proximity Read ↗

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Semantic proximity Read ↗

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.Semantic proximity Read ↗

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.Semantic proximity Read ↗

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Semantic proximity Read ↗

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.Semantic proximity Read ↗

Oculo-facio-cardio-dental (OFCD) syndromeSemantic proximity Read ↗

Oculofaciocardiodental syndrome: a rare case and review of the literature.Semantic proximity Read ↗

Oculofaciocardiodental syndrome caused by a novel BCOR variantSemantic proximity Read ↗

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.Semantic proximity Read ↗

Molecular and clinical study of 183 patients with conotruncal anomaly face syndromeSemantic proximity Read ↗

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