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  • Title: Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
    Author: Ioan DM, Fryns JP.
    Journal: Genet Couns; 2003; 14(4):431-3. PubMed ID: 14738118.
    Abstract:
    We describe the clinical histories and physical findings most compatible with the diagnosis of Floating-Harbor syndrome in two sisters. The genetic basis of the Floating-Harbor syndrome is still unclear, and family data are in favour of autosomal recessive inheritance although germinal mosaicism for an autosomal dominant gene mutation cannot be fully excluded.
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