Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme...

Descripción completa

Detalles Bibliográficos
Autores principales: IJspeert, Hanna, Warris, Adilia, Flier, Michiel, Reisli, Ismail, Keles, Sevgi, Chishimba, Sandra, Dongen, Jacques JM, Gent, Dik C, Burg, Mirjam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals 2013
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910166/
https://www.ncbi.nlm.nih.gov/pubmed/24027040
http://dx.doi.org/10.1002/humu.22436

Ejemplares similares

Ejemplares similares