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A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome
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نویسنده
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Hazan Filiz ,Karaca Emin ,Koker Sultan Aydin ,Korkmaz Huseyin Anil ,Mese Timur ,Onay Huseyin ,Ozkinay Ferda
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منبع
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innovative journal of pediatrics - 2013 - دوره : 23 - شماره : 5 - صفحه:608 -609
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چکیده
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Cardiofaciocutaneous syndrome (cfc) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. cfc is caused by mutations in braf, mek1, mek2, kras genes encoding proteins of the ras/mapk signaling pathway. in more than 70% of cfc patients, braf mutations are detected.
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کلیدواژه
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Cardiofaciocutaneous Syndrome; Mutation; BRAF Protein ,Human
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آدرس
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Dr. Behcet Uz Children's Hospital, Department of Medical Genetics, Turkey, Dr. Behcet Uz Children's Hospital, Department of Medical Genetics, Turkey, Dr. Behcet Uz Children's Hospital, Department of Pediatrics, Turkey, Dr. Behcet Uz Children's Hospital, Department of Pediatrics, Turkey, Dr. Behcet Uz Children's Hospital, Department of Pediatric Cardiology, Turkey, Dr. Behcet Uz Children's Hospital, Department of Medical Genetics, Turkey, Dr. Behcet Uz Children's Hospital, Department of Medical Genetics, Turkey
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Authors
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