The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

Bezniakow, Natalia; Gos, Monika; Obersztyn, Ewa

Bezniakow, Natalia; Gos, Monika; Obersztyn, Ewa.

Affiliation

Bezniakow N; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-361, tel. (+48) 504-125-360, e-mail: natalia.bezniakow@imid.med.pl.

Dev Period Med ; 18(3): 285-96, 2014.

Article in En | MEDLINE | ID: mdl-25182392

Subject(s)

Arteriovenous Malformations/genetics; Capillaries/abnormalities; Craniofacial Abnormalities/genetics; Ectodermal Dysplasia/genetics; Failure to Thrive/genetics; Germ-Line Mutation; Heart Defects, Congenital/genetics; Mitogen-Activated Protein Kinases/genetics; Neurofibromatosis 1/genetics; Port-Wine Stain/genetics; ras Proteins/genetics; Costello Syndrome; Facies; Humans; LEOPARD Syndrome/genetics; MAP Kinase Signaling System/genetics; Noonan Syndrome; Signal Transduction/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Arteriovenous Malformations / Capillaries / Ectodermal Dysplasia / Neurofibromatosis 1 / Germ-Line Mutation / Ras Proteins / Craniofacial Abnormalities / Port-Wine Stain / Mitogen-Activated Protein Kinases / Failure to Thrive Type of study: Etiology_studies Limits: Humans Language: En Journal: Dev Period Med Journal subject: PEDIATRIA Year: 2014 Type: Article

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