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Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome

  • Published:2018-03 Issue:2 Volume:34 Page:e61-e63
  • ISSN:0740-9303
  • Container-title:Ophthalmic Plastic & Reconstructive Surgery
  • language:en
  • Short-container-title:

Author:

Zuazo Francisca,Astiazaran Mirena C.,Rodríguez-Cabrera Lourdes,Garcia-Regil Patricia,Chacon-Camacho Oscar,Tovilla-Canales José L.,Zenteno Juan C.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology,General Medicine,Surgery

Reference9 articles.

1. Macrostomia, ectropion, atrophic skin, hypertrichosis, and growth retardation.;Barber;Syndr Ident,1982

2. Oculoplastic approach to treating Barber-Say syndrome.;Ng;Ophthal Plast Reconstr Surg,2006

3. Barber-Say syndrome in a father and daughter.;Roche;Am J Med Genet A,2010

4. Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family.;Singh;Clin Dysmorphol,2016

5. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes.;Marchegiani;Am J Hum Genet,2015

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