Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. (Q43163937)

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scientific article published on 12 January 2007
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English
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
scientific article published on 12 January 2007

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    Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. (English)
    Deborah Bartholdi
    Jeroen H Roelfsema
    Francesco Papadia
    Martijn H Breuning
    Dunja Niedrist
    Raoul C Hennekam
    Albert Schinzel
    Dorien J M Peters

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