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MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism |
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| Authors: | Toshiyuki Yamamoto Keiko Shimojima Yumiko Ondo Shuichi Shimakawa Nobuhiko Okamoto |
| Affiliation: | 1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan;2. Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan;3. Department of Pediatrics, Osaka Medical College, Osaka, Japan;4. Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan |
| Abstract: | |
| Keywords: | craniosynostosis intellectual disability loss‐of‐function MED13L haploinsufficiency syndrome mosaic |