TY  - GEN
AU  - Martinez-Fernandez, Maria Luisa
AU  - Rodriguez, Laura
AU  - López Mendoza, Santiago
AU  - Aceña, Mª Isabel
AU  - Lapunzina, Pablo
AU  - Martínez-Frías, María Luisa
PY  - 2008
SN  - 0210–3893
UR  - http://hdl.handle.net/20.500.12105/14041
AB  - Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from different abnormalities involving chromosome 15, which could have either a (q11-q13) paternal microdeletion, maternal uniparental disomy (UPD) or a defect of the imprinting...
LA  - spa
PB  - Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
TI  - Síndrome de Prader-Willi por disomía uniparentalmaterna y cariotipomos 47,XX,+mar/46,XX.
T2  - Prader-Willi syndrome by maternal uniparental disomy and a karyotype with a marker chromosome in mosaic
TY  - research article
ER  -