Caricamento...
MECP2 duplications in six patients with complex sex chromosome rearrangements
Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile hypotonia, severe developmental delay, progressive neurological impairment, absent speech, and proneness to infections. Increased expression of the d...
Salvato in:
| Autori principali: | , , , , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2011
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3060318/ https://ncbi.nlm.nih.gov/pubmed/21119712 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.195 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|