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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Short Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker