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Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome |
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| Authors: | Nectoux J Heron D Tallot M Chelly J Bienvenu T |
| Affiliation: | AP-HP, H?pital Cochin, Laboratoire de Biochimie et Genetique Moleculaire, Université Paris 5, Faculté de Médecine René Descartes, UM3, Paris, F-75014 France. |
| Abstract: | |
| Keywords: | CDKL5 MECP2 Rett syndrome seizures |
| 本文献已被 PubMed 等数据库收录！ | |