Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Overview of attention for article published in Human Mutation, November 2011

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Leiden Open Variation Database (LOVD), 05 Sep 2012

Whalen et al used LOVD to report all known mutations in the TCF4 gene database and present a novel diagnostic strategy for Pitt-H…

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