[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile].
Marcelain
Katherine
K
Programa de Genética Humana (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Aracena
Mariana
M
Be
Cecilia
C
Navarrete
Carmen Luz
CL
Moreno
Rosa
R
Santos
Manuel
M
Pincheira
Juana
J
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
Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile.