A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Beckwith‐Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multiloc...

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Detalles Bibliográficos
Autores principales: Grosvenor, Sarah E., Davies, Justin H., Lever, Margaret, Sillibourne, Julie, Mackay, Deborah J. G., Temple, I. Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310769/
https://www.ncbi.nlm.nih.gov/pubmed/35266280
http://dx.doi.org/10.1002/ajmg.a.62717

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