Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation

Prader–Willi syndrome (PWS; MIM# 176270) is a neurodevelopmental disorder caused by the loss of expression of paternally imprinted genes within the PWS region located on 15q11.2. It is usually caused by either maternal uniparental disomy of chromosome 15 (UPD15) or 15q11.2 recurrent deletion(s). Her...

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Detalles Bibliográficos
Autores principales: Eisfeldt, Jesper, Rezayee, Fatemah, Pettersson, Maria, Lagerstedt, Kristina, Malmgren, Helena, Falk, Anna, Grigelioniene, Giedre, Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796698/
https://www.ncbi.nlm.nih.gov/pubmed/35842787
http://dx.doi.org/10.1002/humu.24440

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796698/
https://www.ncbi.nlm.nih.gov/pubmed/35842787
http://dx.doi.org/10.1002/humu.24440

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