LETTERS TO EDITOR: A NOVEL MISSENSE MUTATION IN BRAF CAUSED CARDIO-FACIO-CUTANEOUS SYNDROME

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HAZAN FILIZ; KARACA EMIN; KOKER SULTAN AYDIN; ANIL KORKMAZ HUSEYIN; MESE TIMUR; ONAY HUSEYIN; OZKINAY FERDA

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Journal: Iranian Journal of Pediatrics Year:2013 | Volume:23 | Issue:5 Page(s): 608-609

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Title

LETTERS TO EDITOR: A NOVEL MISSENSE MUTATION IN BRAF CAUSED CARDIO-FACIO-CUTANEOUS SYNDROME

Author(s)

Keywords

COOMBS TEST

HYPERBILIRUBINEMIA

JAUNDICE

MATERNAL IMMUNOGLOBULIN

MNSS BLOOD GROUP

Abstract

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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APA: Copy

HAZAN, FILIZ, KARACA, EMIN, KOKER, SULTAN AYDIN, ANIL KORKMAZ, HUSEYIN, MESE, TIMUR, ONAY, HUSEYIN, & OZKINAY, FERDA. (2013). LETTERS TO EDITOR: A NOVEL MISSENSE MUTATION IN BRAF CAUSED CARDIO-FACIO-CUTANEOUS SYNDROME. IRANIAN JOURNAL OF PEDIATRICS, 23(5), 608-609. SID. https://sid.ir/paper/669231/en

Vancouver: Copy

HAZAN FILIZ, KARACA EMIN, KOKER SULTAN AYDIN, ANIL KORKMAZ HUSEYIN, MESE TIMUR, ONAY HUSEYIN, OZKINAY FERDA. LETTERS TO EDITOR: A NOVEL MISSENSE MUTATION IN BRAF CAUSED CARDIO-FACIO-CUTANEOUS SYNDROME. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2013;23(5):608-609. Available from: https://sid.ir/paper/669231/en

IEEE: Copy

FILIZ HAZAN, EMIN KARACA, SULTAN AYDIN KOKER, HUSEYIN ANIL KORKMAZ, TIMUR MESE, HUSEYIN ONAY, and FERDA OZKINAY, “LETTERS TO EDITOR: A NOVEL MISSENSE MUTATION IN BRAF CAUSED CARDIO-FACIO-CUTANEOUS SYNDROME,” IRANIAN JOURNAL OF PEDIATRICS, vol. 23, no. 5, pp. 608–609, 2013, [Online]. Available: https://sid.ir/paper/669231/en

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