
New report of a familial case of Moebius syndrome presenting skeletal findings
2010; Wiley; Volume: 152A; Issue: 8 Linguagem: Inglês
10.1002/ajmg.a.33548
ISSN1552-4833
AutoresCarla Graziadio, Marina Boff Lorenzen, Rafael Fabiano Machado Rosa, Louise L. C. Pinto, Paulo Ricardo Gazzola Zen, Giovanni M. Travi, Fabiana Borba Valiatti, Giorgio Adriano Paskulin,
Tópico(s)Congenital limb and hand anomalies
ResumoAmerican Journal of Medical Genetics Part AVolume 152A, Issue 8 p. 2134-2138 Research Letter New report of a familial case of Moebius syndrome presenting skeletal findings† Carla Graziadio, Carla Graziadio Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorMarina B. Lorenzen, Marina B. Lorenzen Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorRafael F.M. Rosa, Rafael F.M. Rosa Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorLouise L.C. Pinto, Louise L.C. Pinto Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, BrazilSearch for more papers by this authorPaulo R.G. Zen, Paulo R.G. Zen Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorGiovanni M. Travi, Giovanni M. Travi Department of Ophthalmology, CHSCPA, Rio Grande do Sul, BrazilSearch for more papers by this authorFabiana Valiatti, Fabiana Valiatti Department of Ophthalmology, CHSCPA, Rio Grande do Sul, BrazilSearch for more papers by this authorGiorgio A. Paskulin, Corresponding Author Giorgio A. Paskulin paskulin@ufcspa.edu.br Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilGenética Clínica – UFSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170 Porto Alegre, RS, Brazil.Search for more papers by this author Carla Graziadio, Carla Graziadio Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorMarina B. Lorenzen, Marina B. Lorenzen Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorRafael F.M. Rosa, Rafael F.M. Rosa Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorLouise L.C. Pinto, Louise L.C. Pinto Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, BrazilSearch for more papers by this authorPaulo R.G. Zen, Paulo R.G. Zen Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilSearch for more papers by this authorGiovanni M. Travi, Giovanni M. Travi Department of Ophthalmology, CHSCPA, Rio Grande do Sul, BrazilSearch for more papers by this authorFabiana Valiatti, Fabiana Valiatti Department of Ophthalmology, CHSCPA, Rio Grande do Sul, BrazilSearch for more papers by this authorGiorgio A. Paskulin, Corresponding Author Giorgio A. Paskulin paskulin@ufcspa.edu.br Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Rio Grande do Sul, Brazil Clinical Genetics, Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Rio Grande do Sul, Brazil Department of Clinical Medicine, UFCSPA, Rio Grande do Sul, Brazil Graduate Program in Pathology, UFCSPA, Rio Grande do Sul, BrazilGenética Clínica – UFSCPA, Rua Sarmento Leite, 245/403, CEP: 90050-170 Porto Alegre, RS, Brazil.Search for more papers by this author First published: 20 July 2010 https://doi.org/10.1002/ajmg.a.33548Citations: 16 † How to Cite this Article: Graziadio C, Lorenzen MB, Rosa RFM, Pinto LLC, Zen PRG, Travi GM, Valiatti F, Paskulin GA. 2010. New report of a familial case of Moebius syndrome presenting skeletal findings. Am J Med Genet Part A 152A:2139–2139. 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