title: [Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile].
authors.affiliation: Programa de Genética Humana (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Katherine
authors.initials: K
authors.lastname: Marcelain
authors.forename: Mariana
authors.initials: M
authors.lastname: Aracena
authors.forename: Cecilia
authors.initials: C
authors.lastname: Be
authors.forename: Carmen Luz
authors.initials: CL
authors.lastname: Navarrete
authors.forename: Rosa
authors.initials: R
authors.lastname: Moreno
authors.forename: Manuel
authors.initials: M
authors.lastname: Santos
authors.forename: Juana
authors.initials: J
authors.lastname: Pincheira
mesh_terms: D002648:Child; D002677:Chile; D043171:Chromosomal Instability / Q000235:genetics*; D002869:Chromosome Aberrations; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
vernacular_title: Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile.