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Variable phenotypic expression of a MECP2 mutation in a family
We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164–1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of the C-terminus of the protein. Two of the three females and both males do not meet RTT cri...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer US
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819215/ https://www.ncbi.nlm.nih.gov/pubmed/20151026 http://dx.doi.org/10.1007/s11689-009-9034-7 |