Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mech...

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Detalles Bibliográficos
Autores principales: Choufani, Sanaa, Ko, Jung Min, Lou, Youliang, Shuman, Cheryl, Fishman, Leona, Weksberg, Rosanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911624/
https://www.ncbi.nlm.nih.gov/pubmed/33513760
http://dx.doi.org/10.3390/genes12020172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911624/
https://www.ncbi.nlm.nih.gov/pubmed/33513760
http://dx.doi.org/10.3390/genes12020172

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