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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder

  • Published:2009-10 Issue:10 Volume:149A Page:2236-2240
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Haensel Jennifer,Kohlschmidt Nicolai,Pitz Susanne,Keilmann Annerose,Zenker Martin,Ullmann Reinhard,Haaf Thomas,Bartsch Oliver

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities;Amor;Am J Med Genet,2001

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

3. Ablepharon-macrostomia syndrome in a 46-year-old woman;Brancati;Am J Med Genet Part A,2004

4. Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1;Cavalcanti;Am J Med Genet Part A,2007

5. Lid agenensis-macrostomia-psychomotor retardation-forehead hypertrichosis-A new syndrome?;Cesarino;Am J Med Genet,1988

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1. Skin and Lacrimal Drainage System;Ocular Pathology;2025

2. Congenital Soft Tissue Deformities;Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery;2020-08-05

3. Skin and Lacrimal Drainage System;Ocular Pathology;2020

4. Barber Say Syndrome (A new case report);Indian Dermatology Online Journal;2019

5. Barber-say syndrome: a confirmed case of TWIST2 gene mutation;Clinical Case Reports;2017-06-02
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