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,...

Descripción completa

Detalles Bibliográficos
Autores principales: Çipe, Funda Erol, Aydogmus, Cigdem, Babayigit Hocaoglu, Arzu, Kilic, Merve, Kaya, Gul Demet, Yilmaz Gulec, Elif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910469/
https://www.ncbi.nlm.nih.gov/pubmed/24511403
http://dx.doi.org/10.1155/2014/614238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910469/
https://www.ncbi.nlm.nih.gov/pubmed/24511403
http://dx.doi.org/10.1155/2014/614238

Ejemplares similares