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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2011-3-7
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pubmed:abstractText |
The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/BRAF protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/KRAS protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MAP Kinase Kinase 1,
http://linkedlifedata.com/resource/pubmed/chemical/MAP Kinase Kinase 2,
http://linkedlifedata.com/resource/pubmed/chemical/MAP2K1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MAP2K2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins B-raf,
http://linkedlifedata.com/resource/pubmed/chemical/ras Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1365-2133
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pubmed:author |
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pubmed:copyrightInfo |
© 2011 The Authors. BJD © 2011 British Association of Dermatologists.
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pubmed:issnType |
Electronic
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pubmed:volume |
164
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
521-9
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pubmed:dateRevised |
2011-9-22
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pubmed:meshHeading |
pubmed-meshheading:21062266-Abnormalities, Multiple,
pubmed-meshheading:21062266-Adolescent,
pubmed-meshheading:21062266-Adult,
pubmed-meshheading:21062266-Child,
pubmed-meshheading:21062266-Child, Preschool,
pubmed-meshheading:21062266-Ectodermal Dysplasia,
pubmed-meshheading:21062266-Facies,
pubmed-meshheading:21062266-Failure to Thrive,
pubmed-meshheading:21062266-Female,
pubmed-meshheading:21062266-Germ-Line Mutation,
pubmed-meshheading:21062266-Hair Diseases,
pubmed-meshheading:21062266-Heart Defects, Congenital,
pubmed-meshheading:21062266-Humans,
pubmed-meshheading:21062266-Infant,
pubmed-meshheading:21062266-MAP Kinase Kinase 1,
pubmed-meshheading:21062266-MAP Kinase Kinase 2,
pubmed-meshheading:21062266-Male,
pubmed-meshheading:21062266-Proto-Oncogene Proteins,
pubmed-meshheading:21062266-Proto-Oncogene Proteins B-raf,
pubmed-meshheading:21062266-Skin Abnormalities,
pubmed-meshheading:21062266-Young Adult,
pubmed-meshheading:21062266-ras Proteins
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pubmed:year |
2011
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pubmed:articleTitle |
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
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pubmed:affiliation |
Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA. dsiegel@mcw.edu
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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