Literature DB >> 10482881

Lower lip pits and anorectal anomalies in Kabuki syndrome.

N M Kokitsu-Nakata1, S Vendramini, M L Guion-Almeida.   

Abstract

We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425]. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID： 10482881     DOI： 10.1002/(sici)1096-8628(19990917)86:3<282::aid-ajmg17>3.0.co;2-q

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

Authors:  I Ratbi; N Fejjal; L Micale; B Augello; C Fusco; J Lyahyai; G Merla; A Sefiani
Journal:  Mol Syndromol       Date:  2013-01-30

2.  Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Authors:  Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802
  2 in total

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