학술논문
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
Document Type
Article
Author
Niceta, M.; Ciolfi, A.; Ferilli, M.; Cappelletti, C.; Chiriatti, L.; Dallapiccola, B.; Tartaglia, M.; Pedace, L.; Nardini, C.; Miele, E.; Hildonen, M.; Tumer, Z.; Dentici, M.L.; Digilio, M.C.; Gnazzo, M.; Cesario, C.; Pisaneschi, E.; Novelli, A.; Baban, A.; Maitz, S.; Selicorni, A.; Squeo, G.M.; Merla, G.; Priolo, M.
Source
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2024)
Subject
Language
English
ISSN
14765438
10184813
10184813