Genetics of Prader-Willi syndrome

• अन्य लेखक: Butler, Merlin G. (संपादक), Godler, David E. (संपादक)
• स्वरूप: इलेक्ट्रोनिक पुस्तक अध्याय
• भाषा: अंग्रेज़ी
• प्रकाशित: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• विषय: Medicine; Prader-Willi syndrome; appetite treatment; Caralluma fimbriata extract; single-case; thromboembolism; risk factors; vasculitis; blood clots; registry; natural history; age diagnosis; obesity; deletion; uniparental disomy; genetic syndrome; mental illness; psychosis; major depressive illness; obsessive-compulsive disorder; autism; eating disorder; skin picking; insurance health claims; thrombosis; pulmonary embolism; deep venous thrombosis; individuals with exogenous obesity; confirmatory ICD-9 diagnostic codes; Prader-Willi; 15q11.2; SNORD116; atypical microdeletion; food-related behavior; childhood; scoliosis; kyphosis; spinal deformities; junctional kyphosis; treatment options; surgery; bracing; KATP channel activation; hyperphagic obesity; animal models; weight; BMI; pediatric; linear mixed models; gut microbiota; bacteria; fungi; diet; hyperphagia; cross-sectional; games; parents; home; exercise; bone health; Prader-Willi syndrome (PWS); PWS molecular classes; PWS genetic subtype-phenotype correlations; psychiatric behavioral phenotype; growth hormone treatment; pharmacogenetic testing; cytochrome P450 enzymes; drug interactions; medication management; n/a
• ऑनलाइन पहुंच: DOAB: download the publication; DOAB: description of the publication

Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if dete...