Literature DB >> 14981723

Long-term follow-up of three individuals with Kabuki syndrome.

Stavit A Shalev1, Lorne A Clarke, David Koehn, Sylvie Langlois, Elaine H Zackai, Judith G Hall, Donna M McDonald McGinn.   

Abstract

Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed. Copyright 2003 Wiley-Liss, Inc.

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Year:  2004        PMID: 14981723     DOI: 10.1002/ajmg.a.20375

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency.

Authors:  Akifusa Wada; Tomoyuki Nakamura; Toru Yamaguchi; Haruhisa Yanagida; Kazuyuki Takamura; Yutaka Oketani; Hideaki Kubota; Toshio Fujii
Journal:  J Child Orthop       Date:  2012-07-24       Impact factor: 1.548

Review 2.  Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Authors:  Stefano Stagi; Anna Virginia Gulino; Elisabetta Lapi; Donato Rigante
Journal:  Immunol Res       Date:  2016-04       Impact factor: 2.829

3.  Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome.

Authors:  Pamela Ventola; Anamiguel Pomales-Ramos; Elizabeth A DeLucia
Journal:  Am J Case Rep       Date:  2019-04-02

4.  Epigenetic interaction between UTX and DNMT1 regulates diet-induced myogenic remodeling in brown fat.

Authors:  Fenfen Li; Jia Jing; Miranda Movahed; Xin Cui; Qiang Cao; Rui Wu; Ziyue Chen; Liqing Yu; Yi Pan; Huidong Shi; Hang Shi; Bingzhong Xue
Journal:  Nat Commun       Date:  2021-11-25       Impact factor: 14.919

  4 in total

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