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De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient |
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| Authors: | Munetsugu Hara Chihiro Ohba Yushiro Yamashita Hirotomo Saitsu Naomichi Matsumoto Toyojiro Matsuishi |
| Affiliation: | 1. Department of Neonatology, Medical Center for Maternal and Child Health, Kurume, Fukuoka, Japan;2. Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa‐ku, Yokohama, Japan;3. Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan |
| Abstract: | |
| Keywords: | Rett syndrome SHANK3 de novo frameshift deletion whole‐exome sequencing |