Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Publisher： Karger

E-ISSN： 1661-8777|6|2|99-103

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.6, Iss.2, 2015-03, pp. : 99-103

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