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

Affiliations

¹ 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. Electronic address: kishimoto-y@ncchd.go.jp.
² Department of Medical Genetics, Kitasato University, Sagamihara, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
⁴ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁵ Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
⁶ Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
⁷ Department of Neuro-pediatrics, Shimada Ryouiku Center Hachiouji, Tokyo, Japan.

Case Reports

Yoko Narumi-Kishimoto et al. Eur J Med Genet. 2019 Sep.

. 2019 Sep;62(9):103547.

doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26.

¹ 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. Electronic address: kishimoto-y@ncchd.go.jp.
² Department of Medical Genetics, Kitasato University, Sagamihara, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
⁴ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
⁵ Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
⁶ Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
⁷ Department of Neuro-pediatrics, Shimada Ryouiku Center Hachiouji, Tokyo, Japan.

No abstract available

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