ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the ankyrin repeat-containing protein 11A trans...

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Detalles Bibliográficos
Autores principales: Awamleh, Zain, Choufani, Sanaa, Cytrynbaum, Cheryl, Alkuraya, Fowzan S, Scherer, Stephen, Fernandes, Sofia, Rosas, Catarina, Louro, Pedro, Dias, Patricia, Neves, Mariana Tomásio, Sousa, Sérgio B, Weksberg, Rosanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117159/
https://www.ncbi.nlm.nih.gov/pubmed/36440975
http://dx.doi.org/10.1093/hmg/ddac289

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