Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

doi:10.1002/ajmg.a.31658

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Article

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

American journal of medical genetics. Part A - 15 Apr 2007

Narumi Yoko, Aoki Yoko, Niihori Tetsuya, Neri Giovanni, Cavé Hélène, Verloes Alain, Nava Caroline, Kavamura Maria Ines, Okamoto Nobuhiko, Kurosawa Kenji, Hennekam Raoul C M, Wilson Louise C, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Lapunzina Pablo, Ohashi Hirofumi, Makita Yoshio, Kondo Ikuko, Tsuchiya Shigeru, Ito Etsuro, Sameshima Kiyoko, Kato Kumi, Kure Shigeo, Matsubara Yoichi

Abstract excerpt

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in...

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Identifiers

PMID: 17366577
DOI: 10.1002/ajmg.a.31658

Genes

BRAF
KRAS
HRAS
MAPK3
PTPN11

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