Literature DB >> 9415700

Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome.

R Sod, G Izbizky, M Cohen-Salama.   

Abstract

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Year:  1997        PMID: 9415700

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


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  3 in total

1.  Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:  Shannon Marchegiani; Taylor Davis; Federico Tessadori; Gijs van Haaften; Francesco Brancati; Alexander Hoischen; Haigen Huang; Elise Valkanas; Barbara Pusey; Denny Schanze; Hanka Venselaar; Anneke T Vulto-van Silfhout; Lynne A Wolfe; Cynthia J Tifft; Patricia M Zerfas; Giovanna Zambruno; Ariana Kariminejad; Farahnaz Sabbagh-Kermani; Janice Lee; Maria G Tsokos; Chyi-Chia R Lee; Victor Ferraz; Eduarda Morgana da Silva; Cathy A Stevens; Nathalie Roche; Oliver Bartsch; Peter Farndon; Eva Bermejo-Sanchez; Brian P Brooks; Valerie Maduro; Bruno Dallapiccola; Feliciano J Ramos; Hon-Yin Brian Chung; Cédric Le Caignec; Fabiana Martins; Witold K Jacyk; Laura Mazzanti; Han G Brunner; Jeroen Bakkers; Shuo Lin; May Christine V Malicdan; Cornelius F Boerkoel; William A Gahl; Bert B A de Vries; Mieke M van Haelst; Martin Zenker; Thomas C Markello
Journal:  Am J Hum Genet       Date:  2015-06-25       Impact factor: 11.025

2.  A case of Barber-Say syndrome in a male Japanese newborn.

Authors:  Kenichi Suga; Miki Shono; Aya Goji; Sato Matsuura; Miki Inoue; Masami Kawahito; Michiyo Kinoshita; Misa Takeda; Kazuhiro Mori
Journal:  Clin Case Rep       Date:  2014-09-04

3.  Barber-say syndrome: a confirmed case of TWIST2 gene mutation.

Authors:  Mulakkan David Yohannan; Jennifer Hilgeman; Katlin Allsbrook
Journal:  Clin Case Rep       Date:  2017-06-02
  3 in total

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