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Craniosynostois

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https://www.readbyqxmd.com/read/28317252/oculo-facio-cardio-dental-syndrome-with-craniosynostosis-temporal-hypertrichosis-and-deafness
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James J O'Byrne, Eoghan Laffan, Dylan J Murray, William Reardon
We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.
May 2017: American Journal of Medical Genetics. Part A
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