Biallelic missense CEP55 variants cause prenatal MARCH syndrome

作者：Lina Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Fujita, Atsuo Itakura, Naomichi Matsumoto · 发表于：Journal of Human Genetics · 年份：2024 · DOI：10.1038/s10038-024-01298-7 · 被引用次数：2 · 研究领域：Genetic factors in colorectal cancer、Genetics and Neurodevelopmental Disorders、Congenital heart defects research