TY  - GEN
AU  - MacDonald, Alexandra
AU  - Martinez-Fernandez, Maria Luisa
AU  - Aceña, María Isabel
AU  - Serrano Madrid, ML
AU  - Romero-Gil, R
AU  - Bermejo-Sanchez, Eva
AU  - Martínez-Frías, María Luisa
PY  - 2012
SN  - 0210–3893
UR  - http://hdl.handle.net/20.500.12105/14097
AB  - Since the first report by Elliott et al., in 1970, of a patient with partial deletion of the short arm of chromosome 10 (10p), at least 67 further cases have been reported, of which 44 were pure de novo deletions. Two syndromes have been associated...
LA  - spa
PB  - Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
KW  - Deleción 10p
KW  - Síndrome
KW  - DiGeorge 2
KW  - HDR
KW  - GATA3
KW  - 10p deletion
KW  - Syndrome
TI  - Un nuevo paciente con deleción 10p y revisión de la literatura. Estudio de la correlación genotipo-fenotipo
T2  - A new patient with deletion of 10p and revision of the literature. Study of the genotype-phenotype correlation
TY  - review article
ER  -