Se la conosci la riconosci
La sindrome Kabuki
Paola Cianci1, Laura Bettini2, Angelo Selicorni3
1Clinica Pediatrica, Ospedale F. Del Ponte, Università dell’Insubria Varese-Como, Varese
2Clinica Pediatrica, Fondazione MBBM, Ospedale San Gerardo, Università Milano Bicocca, Monza
3UOC di Pediatria, ASST Lariana PO San Fermo della Battaglia, Como
Febbraio 2017 - pagg. 113 -114
Suggerite dall'AI
Classificazione MeSH
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Bibliografia
di riferimento
• Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. GeneReviews 2011 [Internet]. • Barozzi S, Di Berardino F, Atzeri F, et al. Audiological and vestibular findings in the Kabuki syndrome. Am J Med Genet A 2009; 149A(2):171-6. • Bögershausen N, Gatinois V, Riehmer V, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum Mutat 2016;37 (9):847-64. • Dentici ML, Di Pede A, Lepri FR, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child 2015;100(2):158-64. • Hoffman JD, Ciprero KL, Sullivan KE, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A 2005;135(3):278-81. • Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshiftmutation in KDM6A. Am J Med Genet A 2014; 164A(5):1289-92. • Margot H, Geneviève D, Gatinois V, et al. Typical facial gestalt in Xlinked Kabuki syndrome. Am J Med Genet A 2016;170(12):3363-4. • Morgan AT, Mei C, Da Costa A, et al. Speech and language in a genotyped cohort of individuals with Kabuki syndrome. Am J Med Genet A 2015;167(7):1483-92.
• Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. GeneReviews 2011 [Internet]. • Barozzi S, Di Berardino F, Atzeri F, et al. Audiological and vestibular findings in the Kabuki syndrome. Am J Med Genet A 2009; 149A(2):171-6. • Bögershausen N, Gatinois V, Riehmer V, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum Mutat 2016;37 (9):847-64. • Dentici ML, Di Pede A, Lepri FR, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child 2015;100(2):158-64. • Hoffman JD, Ciprero KL, Sullivan KE, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A 2005;135(3):278-81. • Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshiftmutation in KDM6A. Am J Med Genet A 2014; 164A(5):1289-92. • Margot H, Geneviève D, Gatinois V, et al. Typical facial gestalt in Xlinked Kabuki syndrome. Am J Med Genet A 2016;170(12):3363-4. • Morgan AT, Mei C, Da Costa A, et al. Speech and language in a genotyped cohort of individuals with Kabuki syndrome. Am J Med Genet A 2015;167(7):1483-92.
Corrispondenza: angelo.selicorni61@gmail.com