Literature DB >> 16650233

What syndrome is this? Barber-Say syndrome.

Daniela Tenea1, Witold K Jacyk.   

Abstract

Mesh:

Year:  2006        PMID: 16650233     DOI: 10.1111/j.1525-1470.2006.00210.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


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  3 in total

1.  Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

Authors:  Beatrice De Maria; Tresia de Jager; Caitlin Sarubbi; Oliver Bartsch; Alberto Bianchi; Francesco Brancati; Hon-Yin B Chung; Albert David; Ariana Kariminejad; Maura Foresti; Marina Gallottini; Bertrand Isidor; Shannon Marchegiani; Fabiana Martins; Laura Mazzanti; Nathalie Roche; Ankur Singh; Cathy Stevens; Kenichi Suga; Martin Zenker; Raoul C Hennekam
Journal:  Mol Syndromol       Date:  2017-04-27

2.  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

Review 3.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Authors:  Piero Pavone; Andrea D Praticò; Raffaele Falsaperla; Martino Ruggieri; Marcella Zollino; Giovanni Corsello; Giovanni Neri
Journal:  Ital J Pediatr       Date:  2015-08-05       Impact factor: 2.638

  3 in total

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