Literature DB >> 7856641

New case of the Carey-Fineman-Ziter syndrome.

M Baraitser1, W Reardon.   

Abstract

We present a further case, the fourth known to us, of the Carey-Fineman-Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius-like clinical picture, is emphasised.

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Year:  1994        PMID： 7856641     DOI： 10.1002/ajmg.1320530208

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


  2 in total

1.  Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Authors:  Aida Telegrafi; Bryn D Webb; Sarah M Robbins; Carlos E Speck-Martins; David FitzPatrick; Leah Fleming; Richard Redett; Andreas Dufke; Gunnar Houge; Jeske J T van Harssel; Alain Verloes; Angela Robles; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs; David Valle; John Carey; Julie E Hoover-Fong; Nara L M Sobreira
Journal:  Am J Med Genet A       Date:  2017-08-04       Impact factor: 2.802

2.  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Authors:  Silvio Alessandro Di Gioia; Samantha Connors; Norisada Matsunami; Jessica Cannavino; Matthew F Rose; Nicole M Gilette; Pietro Artoni; Nara Lygia de Macena Sobreira; Wai-Man Chan; Bryn D Webb; Caroline D Robson; Long Cheng; Carol Van Ryzin; Andres Ramirez-Martinez; Payam Mohassel; Mark Leppert; Mary Beth Scholand; Christopher Grunseich; Carlos R Ferreira; Tyler Hartman; Ian M Hayes; Tim Morgan; David M Markie; Michela Fagiolini; Amy Swift; Peter S Chines; Carlos E Speck-Martins; Francis S Collins; Ethylin Wang Jabs; Carsten G Bönnemann; Eric N Olson; John C Carey; Stephen P Robertson; Irini Manoli; Elizabeth C Engle
Journal:  Nat Commun       Date:  2017-07-06       Impact factor: 14.919
  2 in total

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