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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

by Neri, Giovanni , Ohashi, Hirofumi , Kato, Kumi , Kure, Shigeo , Kaname, Tadashi , Wieczorek, Dagmar , Okamoto, Nobuhiko , Matsubara, Yoichi , Niihori, Tetsuya , Matsumoto, Naomichi , Hennekam, Raoul C M , Kavamura, Maria Ines , Verloes, Alain , Cavé, Hélène , Bonneau, Dominique , Naritomi, Kenji , Narumi, Yoko , Kurosawa, Kenji , Baumann, Clarisse , Heron, Delphine , Aoki, Yoko , Gillessen-Kaesbach, Gabriele , Corona, Giuseppina , Wilson, Louise

in Agriculture / Amino Acid Sequence / Animal Genetics and Genomics / Biological and medical sciences / Biomedical and Life Sciences / Biomedicine / brief-communication / Cancer Research / Cell physiology / Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes / Complications and side effects / Diagnosis / Face - abnormalities / Fundamental and applied biological sciences. Psychology / Gene Function / Gene mutations / Genetic disorders / Genetics of eukaryotes. Biological and molecular evolution / Genotype & phenotype / Heart Defects, Congenital - genetics / Human Genetics / Humans / Identification and classification / Intellectual Disability - genetics / Medical disorders / Molecular and cellular biology / Molecular Sequence Data / Mutation / Oncogenes / Physiological aspects / Proto-Oncogene Proteins - genetics / Proto-Oncogene Proteins B-raf - genetics / Proto-Oncogene Proteins p21(ras) / ras Proteins / Reference Values / Risk factors / Skin Abnormalities - genetics / Syndrome

2006

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

2006

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2006

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Journal Article

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Neri, Giovanni,

Ohashi, Hirofumi,

Kato, Kumi,

Kure, Shigeo,

Kaname, Tadashi,

Wieczorek, Dagmar,

Okamoto, Nobuhiko,

Matsubara, Yoichi,

Niihori, Tetsuya,

Matsumoto, Naomichi,

Hennekam, Raoul C M,

Kavamura, Maria Ines,

Verloes, Alain,

Cavé, Hélène,

Bonneau, Dominique,

Naritomi, Kenji,

Narumi, Yoko,

Kurosawa, Kenji,

Baumann, Clarisse,

Heron, Delphine,

Aoki, Yoko,

Gillessen-Kaesbach, Gabriele,

Corona, Giuseppina,

Wilson, Louise

2006

Overview

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS , respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders.

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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

Agriculture

/ Amino Acid Sequence

/ Animal Genetics and Genomics

/ Biological and medical sciences

/ Biomedical and Life Sciences

/ Biomedicine

/ brief-communication