Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

BACKGROUND: Duplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity and recurrent...

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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Magini, Pamela, Poscente, Monica, Ferrari, Simona, Vargiolu, Manuela, Bacchelli, Elena, Graziano, Claudio, Wischmeijer, Anita, Turchetti, Daniela, Malaspina, Elisabetta, Marchiani, Valentina, Cordelli, Duccio Maria, Franzoni, Emilio, Romeo, Giovanni, Seri, Marco
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4522089/
https://ncbi.nlm.nih.gov/pubmed/26236399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0164-1
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