Caricamento...
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. CASE PRESENTATION: We performed exome sequencing on a girl with a suspected c...
Salvato in:
Pubblicato in: | BMC Med Genet |
---|---|
Autori principali: | , , , , , , , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
BioMed Central
2015
|
Soggetti: | |
Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4630961/ https://ncbi.nlm.nih.gov/pubmed/25948378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0177-y |
Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|