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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...

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Autors principals: Augenstein, Kimberly, Lane, Jane B., Horton, Antony, Schanen, Carolyn, Percy, Alan K.
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2819215/
https://ncbi.nlm.nih.gov/pubmed/20151026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11689-009-9034-7
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