[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome].
Clinical and cytogenetic studies are performed on 14 patients with PWS including endocrinological investigations, as coagulation factor XI activity and pigmentation studies. Recent hypothesis from molecular analysis are discussed.
Mujica
P
P
Laboratoire de Génétique, C.R.T.S., Nancy.
Leheup
B
B
Gilgenkrantz
S
S
Karp
J C
JC
Pierson
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D005172:Factor XI / Q000032:analysis; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
D005172:Factor XI
Etudes clinique et biologique de 14 cas de syndrome de Prader-Labhart-Willi.