Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

doi:10.1002/humu.22547

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Article

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Human mutation - 1 Jul 2014

Micale Lucia, Augello Bartolomeo, Maffeo Claudia, Selicorni Angelo, Zucchetti Federica, Fusco Carmela, De Nittis Pasquelena, Pellico Maria Teresa, Mandriani Barbara, Fischetto Rita, Boccone Loredana, Silengo Margherita, Biamino Elisa, Perria Chiara, Sotgiu Stefano, Serra Gigliola, Lapi Elisabetta, Neri Marcella, Ferlini Alessandra, Cavaliere Maria Luigia, Chiurazzi Pietro, Monica Matteo Della, Scarano Gioacchino, Faravelli Francesca, Ferrari Paola, Mazzanti Laura, Pilotta Alba, Patricelli Maria Grazia, Bedeschi Maria Francesca, Benedicenti Francesco, Prontera Paolo, Toschi Benedetta, Salviati Leonardo, Melis Daniela, Di Battista Eliana, Vancini Alessandra, Garavelli Livia, Zelante Leopoldo, Merla Giuseppe

Abstract excerpt

Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutational screening on 303 Kabuki patients by direct se...

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PMID: 24633898
DOI: 10.1002/humu.22547
PMCID: PMC4234006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24633898-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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