Presentation Information
[P2-03-10]Maternal Full 15q11q13 Hexasomy with Marked Generalized Hyperpigmentation: Possible OCA2 Gene Dosage Effect
Kaori Fukui1,2, Masaru Matsukura1, Junko Yamamoto1, Ryuta Takase2, Yoriko Watanabe2,3 (1. Department of Pediatrics, Japan Community Health care Organization Kyushu Hospital, Fukuoka, Japan, 2. Dept. Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan, 3. Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Fukuoka, Japan)
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