Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, b...

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Autors principals: Bijlsma, E.K., Collins, A., Papa, F.T., Tejada, M.I., Wheeler, P., Peeters, E.A.J., Gijsbers, A.C.J., van de Kamp, J.M., Kriek, M., Losekoot, M., Broekma, A.J., Crolla, J.A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M.I., Marozza, A., Mencarelli, M.A., Castagnini, C., Dosa, L., Ariani, F., Mari, F., Canitano, R., Hayek, G., Botella, M.P., Gener, B., Mínguez, M., Renieri, A., Ruivenkamp, C.A.L.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3383992/
https://ncbi.nlm.nih.gov/pubmed/22522176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2012.02.009
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