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Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation |
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| Authors: | Toshiki Takenouchi Masaki Ohyagi Chiharu Torii Rika Kosaki Takao Takahashi Kenjiro Kosaki |
| Affiliation: | 1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;2. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;3. Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan;4. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan |
| Abstract: | |
| Keywords: | HANAC COL4A1 Porencephaly |