Article
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Endocrine reviews - 12 Jan 2022
Juriaans Alicia F, Kerkhof Gerthe F, Hokken-Koelega Anita C S
Abstract excerpt
Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome,...
Topics
- Child
- Genotype
- Humans
- Intellectual Disability
- Muscle Hypotonia
- Phenotype
- Prader-Willi Syndrome
- Proteins