Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Khan, Tahir N.; Khan, Kamal; Sadeghpour, Azita; Reynolds, Hannah; Perilla, Yezmin; McDonald, Marie T.; Gallentine, William B.; Baig, Shahid M.; Davis, Erica E.; Katsanis, Nicholas; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John
- 期刊名称The American Journal of Human Genetics
- 作者Khan, Tahir N.; Khan, Kamal; Sadeghpour, Azita; Reynolds, Hannah; Perilla, Yezmin; McDonald, Marie T.; Gallentine, William B.; Baig, Shahid M.; Davis, Erica E.; Katsanis, Nicholas; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John
- 卷第104卷
- 期第1期
- 印刷ISSN0002-9297
- 文件大小2553.77KB
- 发表时间2019-01
- DOI10.1016/j.ajhg.2018.11.017
- 页码94-111