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

Abstract Background The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. Case presentation Dental examinations were carrie...

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Principais autores: M. Batkova, M. Havlovicova, A. Nocar, L. Dudakova, M. Macek, Petra Liskova, Tatjana Dostalova
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2024-10-01
coleção:BMC Oral Health
Assuntos:
BCOR
Dental anomalies
Congenital cataract
Novel pathogenic variants
OFCD syndrome
Syndromic microphthalmia-2 radiculomegaly
Acesso em linha:https://doi.org/10.1186/s12903-024-05005-y
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