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

Koji Masuda, Kazuhiro Akiyama, Michiko Arakawa, Eriko Nishi, Noritaka Kitazawa, Tsukasa Higuchi, Yuki Katou, Katsuhiko Shirahige, Kosuke Izumi

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Medicine & Life Sciences