Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

作者：Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araújo Castro, Rachel Sayuri Honjo, Débora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto · 发表于：Journal of Human Genetics · 年份：2024 · DOI：10.1038/s10038-024-01219-8 · 被引用次数：11 · 研究领域：Genetics and Neurodevelopmental Disorders、Genomics and Rare Diseases、Connective tissue disorders research