Article
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Orphanet journal of rare diseases - 9 Jun 2011
Micale Lucia, Augello Bartolomeo, Fusco Carmela, Selicorni Angelo, Loviglio Maria N, Silengo Margherita Cirillo, Reymond Alexandre, Gumiero Barbara, Zucchetti Federica, D'Addetta Ester V, Belligni Elga, Calcagnì Alessia, Digilio Maria C, Dallapiccola Bruno, Faravelli Francesca, Forzano Francesca, Accadia Maria, Bonfante Aldo, Clementi Maurizio, Daolio Cecilia, Douzgou Sofia, Ferrari Paola, Fischetto Rita, Garavelli Livia, Lapi Elisabetta, Mattina Teresa, Melis Daniela, Patricelli Maria G, Priolo Manuela, Prontera Paolo, Renieri Alessandra, Mencarelli Maria A, Scarano Gioacchino, della Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Abstract excerpt
BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted...
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