Literature DB >> 10779849

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

I Kluijt1, D B van Dorp, M L Kwee, A Toutain, K Keppler-Noreuil, M Warburg, P Bitoun.   

Abstract

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.

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Year:  2000        PMID: 10779849

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  6 in total

1.  Salzmann nodular degeneration features in a case of Kabuki make-up syndrome.

Authors:  Amélia Martins; Mariana Almeida Oliveira; Andreia Rosa; Joaquim Murta
Journal:  BMJ Case Rep       Date:  2019-05-30

2.  Strabismus and poor stereoacuity associated with Kabuki syndrome.

Authors:  Nam Gil Kim; Hyon J Kim; Jeong-Min Hwang
Journal:  Korean J Ophthalmol       Date:  2011-03-11

3.  Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

Authors:  Imtiaz A Chaudhry; Farrukh A Shamsi; Hisham S Alkuraya; Abdulrahman Al-Sharif
Journal:  Int Ophthalmol       Date:  2007-08-16       Impact factor: 2.031

4.  Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.

Authors:  Young-Tae Lee; Alex Ayoub; Sang-Ho Park; Liang Sha; Jing Xu; Fengbiao Mao; Wei Zheng; Yang Zhang; Uhn-Soo Cho; Yali Dou
Journal:  Nat Commun       Date:  2021-05-19       Impact factor: 14.919

Review 5.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

6.  Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

Authors:  Thomas M Bennett; Donna S Mackay; Carla J Siegfried; Alan Shiels
Journal:  PLoS One       Date:  2014-08-04       Impact factor: 3.240

  6 in total

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