Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face,...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Çipe, Funda Erol, Aydogmus, Cigdem, Babayigit Hocaoglu, Arzu, Kilic, Merve, Kaya, Gul Demet, Yilmaz Gulec, Elif
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2014
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3910469/
https://ncbi.nlm.nih.gov/pubmed/24511403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/614238
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker