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Eur J Med Genet. 2018 Sep 26. pii: S1769-7212(18)30312-4. doi: 10.1016/j.ejmg.2018.09.014. [Epub ahead of print]

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

Author information

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