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Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL...
Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three...
Date: 2013
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Origin: Repositório do Centro Hospitalar e Universitário de Coimbra