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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee, Kingsmore, Stephen F, Safina, Nicole P
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Case Report
Linkit: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
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