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Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report |
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| Authors: | Takahiro Yamada Hideaki Sawai Gen Nishimura Hironao Numabe Kazutoshi Cho Hisanori Minakami |
| Institution: | 1. Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;2. Genetic Counselling and Clinical Research Unit, School of Public Health, Graduate School of Medicine, Kyoto University, Kyoto, Japan;3. Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan |
| Abstract: | |
| Keywords: | platyspondylic lethal skeletal dysplasia (PLSD) thanatophoric dysplasia (TD) trisomy 21 nuchal translucency (NT) FGFR3 |