Presentation Information
[P1-09-01]Severe Fetal Phenotype Associated with a de novo ATP6V0A1 p.R804H Variant Suggests a Dominant-Negative Mechanism
Tetsuro Shimada1,2, Kosuke Taniguchi2,3, Ryohei Oeda2,4, Yuri Kondo2, Takafumi Okusa1, Kenji Horie1, Manabu Ogoyama1, Tomoko Kawai3, Kazuhiko Nakabayashi3, Hironori Takahashi1, Kenichiro Hata2,3 (1. Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, Japan, 2. Department of Medical Genetics and Genomics, Gunma University Graduate School of Medicine, Gunma, Japan, 3. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan, 4. Department of Obstetrics and Gynecology, Gunma University Graduate School of Medicine, Gunma, Japan)
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