New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference30 articles.
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2. Rare dental abnormalities seen in oculo-facil-cardio-dental (OFCD) syndrome: three new cases and review of nine patients;Schulze;Am J Med Genet,1999
3. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance;Hedera;Am J Med Genet A,2003
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Cited by 6 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. Oculo-facio-cardio-dental (OFCD) syndrome: a case report;Journal of Medical Case Reports;2024-01-04
2. Oculofaciocardiodental syndrome caused by a novel BCOR variant;Human Genome Variation;2023-06-12
3. Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report;Case Reports in Dentistry;2022-03-29
4. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing;Frontiers in Genetics;2022-03-25
5. A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report;BMC Pediatrics;2022-02-07
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