Article
Three novel mutations in greek sotos patients with rare clinical manifestations.
Hormone research - 1 Jan 2009
Leventopoulos George, Kitsiou-Tzeli Sophia, Psoni Stavroula, Mavrou Ariadni, Kanavakis Emmanuel, Willems Patrick, Fryssira Helen
Abstract excerpt
BACKGROUND: Sotos syndrome is an autosomal dominant disease characterized by tall stature, advanced bone age, typical morphological abnormalities of the face and developmental delay. It is caused by mutations in the NSD1 gene located on chromosome 5. NSD1 mutations are detected in the majority of the Sotos patients, and include intragenic NSD1 mutations and microdeletions in the 5q35 region. Cardiovascular and...
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