15 research outputs found
Consensus statement - Prader-Willi syndrome: Growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment
Prader-Willi syndrome (PWS) is a disabling condition characterized by hypotonia, hyperphagia, obesity, short stature, delayed or absent puberty, and mental retardation. The syndrome complex was first described in 1956 by Dr. Andrea Prader and colleagues [1]. In the 1980s, a characteristic genetic defect was identified involving deletion of paternal alleles at chromosome 15q11-13 [2-6]. This occurs by deletion of alleles on the paternal copy of chromosome 15q, an absent paternal chromosome 15q with maternal disomy, or, rarely, by mutations of the imprinting center of chromosome 15q. The estimated population prevalence of PWS is 1 in 15,000 live births
Taking socio-ecological research at its word: an analysis of publications from a French LTSER (RhĂ´ne River, France)
International audienc
Taking socio-ecological research at its word: an analysis of publications from a French LTSER (RhĂ´ne River, France)
International audienc