MECP2 duplication phenotype in symptomatic females: report of three further cases

BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infect...

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Detalhes bibliográficos
Main Authors: Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3922903/
https://ncbi.nlm.nih.gov/pubmed/24472397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-10
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