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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

作者信息

Narumi-Kishimoto Yoko, Araki Naomi, Migita Ohsuke, Kawai Tomoko, Okamura Kohji, Nakabayashi Kazuhiko, Kaname Tadashi, Ozawa Yuri, Ozawa Hiroshi, Takada Fumio, Hata Kenichiro

机构信息

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Medical Genome Center, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Medical Genetics, Kitasato University, Sagamihara, Japan; Department of Neuro-pediatrics, Shimada Ryouiku Center Hachiouji, Tokyo, Japan.

Department of Medical Genetics, Kitasato University, Sagamihara, Japan.

出版信息

Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26.

DOI:10.1016/j.ejmg.2018.09.014
PMID:30267900
Abstract
摘要

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