Number of the records: 1  

Coffinov-Lowryho syndróm

  1. Subject h.Coffinov-Lowryho syndróm
    Subject h.Coffin-Lowry Syndrome
    Scope note in EnglishA rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
    See also reference (FX) in Slovak proteín-S6-kinázy ribozómové
    See also reference (FX) in English Ribosomal Protein S6 Kinases
    Links (1) - MeSH descriptor
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all