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Costellov syndróm

  1. Subject h.Costellov syndróm
    Subject h.Costello Syndrome
    English X referencesFaciocutaneoskeletal Syndrome
    Scope note in EnglishRare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
    See also reference (FX) in Slovak gény ras
    Noonanovej syndróm
    proteíny protoonkogénové p21(ras)
    See also reference (FX) in English Genes, ras
    Noonan Syndrome
    Proto-Oncogene Proteins p21(ras)
    Links (4) - ARTICLES
    (3) - MeSH descriptor
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Number of the records: 1  

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