[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome]

P Mujica; B Leheup; S Gilgenkrantz; J C Karp; M Pierson

[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome]

J Genet Hum. 1989 Jan;37(1):77-86.

[Article in French]

Authors

P Mujica¹, B Leheup, S Gilgenkrantz, J C Karp, M Pierson

Affiliation

¹ Laboratoire de Génétique, C.R.T.S., Nancy.

PMID: 2715785

Abstract

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.

Publication types

English Abstract

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Chromosome Aberrations / diagnosis*
Chromosome Aberrations / pathology
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 15*
Factor XI / analysis
Growth Disorders / genetics
Humans
Obesity / genetics
Phenotype
Pigmentation Disorders / diagnosis*
Pigmentation Disorders / genetics
Syndrome

Substances

Factor XI