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Autor:
Franconi C, Erika Tenderini, Pierre-Luc Germain, Pereira Mf, Capocefalo D, Alessandro Vitriolo, Natascia Malerba, Tjitske Kleefstra, Nael Nk, Tom S. Koemans, Susan J. Kimber, Sara Cuvertino, Nitin Sabherwal, Monica Frega, Bèchet Nb, Michele Gabriele, van Bokhoven H, Orazio Palumbo, Massimo Carella, Squeo Gm, Giuseppe Merla, C. T. R. M. Stumpel, Catherine B. Millar, Castaldi D, Giuseppe Testa, Siddharth Banka
Kabuki syndrome (KS) is a rare multisystem disorder, characterized by intellectual disability, growth delay, and distinctive craniofacial features. It is mostly caused by de novo mutations of KMT2D, which is responsible for histone H3lysine 4 mono-me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb3afc953da6a213c5f3da2f3a49d224
https://doi.org/10.1101/2021.04.22.440945
https://doi.org/10.1101/2021.04.22.440945
