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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,...

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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

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