Sökning: "cardio-facio-cutaneous syndrome"

Hittade 1 avhandling innehållade orden cardio-facio-cutaneous syndrome.

  1. 1. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER