Výsledky vyhledávání - "Renzo Gherardi"

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

Autor: Dario Cocciadiferro, Natascia Malerba, Alessandra Vancini, Bartolomeo Augello, Giuseppe Merla, Francesca Romana Lepri, Valentina Pes, Bruno Dallapiccola, Antonio Novelli, Paolo Alfieri, Stefano Sotgiu, Renzo Gherardi, Cristina Caciolo, Iolanda Adipietro, Maria Cristina Digilio, Gabriella Maria Squeo

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 1, p 82 (2017)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c400ba4601bf525454988a8b116788b
http://europepmc.org/articles/PMC5796032

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