Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation (Q55670711)

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Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
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    Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation (English)
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    Partha Biswas
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    Govindsamy Kumaramanickavel
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    Corinne Stoetzel
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    Renaud Quillet
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    Jyotirmay Biswas
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    Elisabeth Lajeunie
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    Dominique Renier
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    Fabienne Perrin-Schmitt
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    1 May 2002
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    109
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    3
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    218-25
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