Source:http://linkedlifedata.com/resource/pubmed/id/18394382
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2008-4-8
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pubmed:abstractText |
Noonan syndrome, characterized by short stature, facial anomalies, heart disease and cryptorchidism in males, is an autosomal dominant, genetically heterogeneous disease. Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations. Recently, a new mutation in SOS1 gene has been identified in approximately 20 % of cases of Noonan syndrome without PTPN11 mutation. That difference in genotype has a relationship with phenotype that we must investigate. We report a case of Noonan syndrome due to an SOS1 mutation; we describe his phenotype and subsequent outcome.
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pubmed:language |
spa
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1695-4033
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
365-8
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pubmed:meshHeading |
pubmed-meshheading:18394382-Adolescent,
pubmed-meshheading:18394382-Humans,
pubmed-meshheading:18394382-Male,
pubmed-meshheading:18394382-Noonan Syndrome,
pubmed-meshheading:18394382-Phenotype,
pubmed-meshheading:18394382-Point Mutation,
pubmed-meshheading:18394382-Protein Tyrosine Phosphatase, Non-Receptor Type 11,
pubmed-meshheading:18394382-SOS1 Protein
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pubmed:year |
2008
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pubmed:articleTitle |
[SOS1 mutation: a new cause of Noonan syndrome].
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pubmed:affiliation |
Servicio de Endocrinología Pediátrica. Departamento de Pediatría. Hospital Materno-Infantil Carlos Haya. Málaga. España.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
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