The 59th Annual Meeting of the Japanese Society of Child Neurology

Presentation information

Poster Presentation

genetic abnormality

[P31] Poster Presentation
teratology 4

Fri. Jun 16, 2017 6:10 PM - 6:35 PM Poster (3F Event Hall)

Chair:Hiroshi Kawame(Division of Genomic Medical Support and Genetic Counseling, Tohoku Medical Megabank Organization, Miyagi, Japan)

[P-174] A case of Nicolaides-Baraitser syndrome with mutation of SMARCA2 gene by whole exome analysis.

Hiroko Tada1, Motomichi Kosuga2, Kei Murayama3, Kenichiro Hata4, Osuke Migita4, Jun-ichi Takanashi5 (1.Chibaken Saiseikai Hospital, Devision of Pediatrics, Narashino, Japan, 2.National Center for Child Health and Development, Department of Human Genetics, Tokyo, Japan, 3.Chiba Children's Hospital, Devision of Metabolism, Chiba, Japan, 4.National Center for Child Health and Development, Department of Perinatal Research , Tokyo, Japan, 5.Tokyo Women's Meedical University Yachiyo Medical Center, Department of Pediatrics, Yachiyo, Japan)

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