Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal uniparental disomy (43%), imprinting defect (4%) or tran...

Descripción completa

Detalles Bibliográficos
Autores principales: Grootjen, Lionne N., Juriaans, Alicia F., Kerkhof, Gerthe F., Hokken-Koelega, Anita C. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369699/
https://www.ncbi.nlm.nih.gov/pubmed/35956251
http://dx.doi.org/10.3390/jcm11154636

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369699/
https://www.ncbi.nlm.nih.gov/pubmed/35956251
http://dx.doi.org/10.3390/jcm11154636

Ejemplares similares