An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader–Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with small nucleolar RNA (snoRNA) genes under the control...

Descripción completa

Detalles Bibliográficos
Autores principales: Crenshaw, Molly M., Graw, Sharon L., Slavov, Dobromir, Boyle, Theresa A., Piqué, Daniel G., Taylor, Matthew, Baker, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511293/
https://www.ncbi.nlm.nih.gov/pubmed/37736297
http://dx.doi.org/10.1155/2023/4225092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511293/
https://www.ncbi.nlm.nih.gov/pubmed/37736297
http://dx.doi.org/10.1155/2023/4225092

Ejemplares similares