Characterization of a novel KRAS mutation identified in Noonan syndrome

Noonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activated protein ki...

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Veröffentlicht in:	American journal of medical genetics. Part A 2012-03, Vol.158A (3), p.524-532
Hauptverfasser:	Razzaque, Md. Abdur, Komoike, Yuta, Nishizawa, Tsutomu, Inai, Kei, Furutani, Michiko, Higashinakagawa, Toru, Matsuoka, Rumiko
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acid Substitution Animals Biological and medical sciences Cardiology. Vascular system Cohort Studies congenital heart disease Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava Danio rerio Diseases of the osteoarticular system Female Gene Knockdown Techniques Genes, ras Heart Humans In Situ Hybridization KRAS maldevelopment Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations MAPK signaling Medical genetics Medical sciences Mice Molecular Sequence Data Mutation Noonan syndrome Noonan Syndrome - genetics Pedigree RAS RASopathy Sequence Homology, Amino Acid Zebrafish
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