Number of the records: 1  

Silverov-Russellov syndróm

  1. Subject h.Silverov-Russellov syndróm
    Subject h.Silver-Russell Syndrome
    Entry termsRussellov-Silverov syndróm
    Silverova Russelova zakrpatenosť
    English X referencesSilver Russell Dwarfism
    Silver-Russell Dwarfism
    Scope note in EnglishGenetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
    See also reference (FX) in Slovak Beckwithov-Wiedemannov syndróm
    See also reference (FX) in English Beckwith-Wiedemann Syndrome
    Links (3) - ARTICLES
    (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