Ontology highlight
ABSTRACT:
SUBMITTER: Proffitt J
PROVIDER: S-EPMC6349475 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Proffitt Jennifer J Osann Kathryn K McManus Barbara B Kimonis Virginia E VE Heinemann Janalee J Butler Merlin G MG Stevenson David A DA Gold June-Anne JA
American journal of medical genetics. Part A 20181219 2
Prader-Willi syndrome (PWS) is a multi-system disorder resulting from a lack of paternal gene expression in the 15q11.2-q13 region. Using databases compiled through response questionnaires completed by families known to the Prader-Willi Syndrome Association (USA), this study tested the hypothesis that PWS genetic subtype, BMI, age of diagnosis, clinical symptoms, and growth hormone treatment differ among deceased and living individuals with PWS. Categorical and continuous variables were compared ...[more]