Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome

BACKGROUND: ASXL2 encodes proteins involved in epigenetic regulation and the assembly of transcription factors at specific genomic loci. Germline de novo truncating variants in ASXL2 have been implicated in Shashi‐Pena syndrome, which results in features of developmental delay (DD), glabellar nevus...

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Detalles Bibliográficos
Autores principales: Zheng, Yanyan, Yang, Le, Niu, Mengmeng, Zhao, Siyu, Liang, Lili, Wu, Yan, Li, Taoli, Yang, Fan, Yang, Zuozhen, Wang, Yan, Wang, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655504/
https://www.ncbi.nlm.nih.gov/pubmed/37493007
http://dx.doi.org/10.1002/mgg3.2251

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