Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with m...

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Detalles Bibliográficos
Publicado en:Int J Mol Sci
Autores principales: Lepri, Francesca Romana, Cocciadiferro, Dario, Augello, Bartolomeo, Alfieri, Paolo, Pes, Valentina, Vancini, Alessandra, Caciolo, Cristina, Squeo, Gabriella Maria, Malerba, Natascia, Adipietro, Iolanda, Novelli, Antonio, Sotgiu, Stefano, Gherardi, Renzo, Digilio, Maria Cristina, Dallapiccola, Bruno, Merla, Giuseppe
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2017
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796032/
https://ncbi.nlm.nih.gov/pubmed/29283410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19010082
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