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http://acervodigital.unesp.br/handle/11449/12631- Title:
- Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
- Universidade Estadual Paulista (UNESP)
- Universidade de São Paulo (USP)
- 1552-4825
- We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. (C) 2008 Wiley-Liss, Inc.
- 15-Aug-2008
- American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 16, p. 2134-2137, 2008.
- 2134-2137
- Wiley-liss
- blepharophimosis
- craniofacial abnormalities
- skeletal abnormalities syndrome
- http://dx.doi.org/10.1002/ajmg.a.32428
- Acesso restrito
- outro
- http://repositorio.unesp.br/handle/11449/12631
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