Presentation Information

[P2-07-8]A Case of SMC3-related CdLS Unraveled by WES After a Diagnostic Odyssey

Keiko Takahashi1, Sachiko Ohori1,3, Naomi Araki1, Asuka Hori5, Kenichiro Hata2,5, Fumio Takada1,4 (1.Division of Genetics, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Molecular and Cellular Biology, Gunma University, Gunma, Japan, 3.Department of Laboratoy Medicine, St. Marianna University School of Medicine, Kanagawa, Japan, 4.Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan, 5.Department of Maternal-Fetal Biology, National Reseach Institute for Child Health and Development, Tokyo, Japan)

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