Geleophysic dysplasia: report on two sibs

Detalhes bibliográficos
Autor(a) principal: Boy, Raquel
Data de Publicação: 1998
Outros Autores: Llerena Junior, Juan Clinton, Pimentel, Maria Mattos Gonçalves, Almeida, José Carlos Cabral de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/6333
Resumo: Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado.
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spelling Boy, RaquelLlerena Junior, Juan ClintonPimentel, Maria Mattos GonçalvesAlmeida, José Carlos Cabral de2013-02-22T19:51:02Z2013-02-22T19:51:02Z1998BOY, Raquel et al. Geleophysic dysplasia: report on two sibs. Genet. Mol. Biol. Ribeirão Preto, v. 21, n. 1, mar. 1998.https://www.arca.fiocruz.br/handle/icict/633310.1590/S1415-47571998000100027Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado.The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilUniversidade Federal do RIo de Janeiro. Instituto de Biofísica Carlos Chagas Filho. Unidade de Citogenética Humana. Rio de Janeiro, RJ, BrasilengKoiffman, C.P., Wajntal, A., Ursich, M.J.M. and Pupo, A.A. (1984). Familial recurrence of geleophysic dysplasia. Am. J. Med. Genet. 19: 483-486.Lipson, A.H., Khan, A.E. and Kozlowski, K. (1987). Geleophysic dysplasia-acromicric dysplasia with evidence of glycoprotein storage. Am. J. Med. Genet. 3 (Suppl.): 181-189.Pontz, B.F., Stöb, H., Henschke, F., Freisinger, P., Karbowski, A. and Spranger, J. (1996). Clinical and ultrastructural findings in three patients with Geleophysic dysplasia. Am. J. Med. Genet. 63: 50-54.Rosser, E.M., Wilkinson, A.R., Hurst, J.A., McGaughran, J.M. and Donnai, D. (1995). Geleophysic dysplasia: report of three affected boys - prenatal ultrasound does not detect recurrence. Am. J. Med. Genet. 58: 217-222.Shohat, M., Gruber, H.E. and Payon, R.A. (1989). Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart and trachea. J. Med. Genet. 26: 320-325.Spranger, J.W., Gilbert, E.F., Tuffli, G.A., Rossiter, F.P. and Opitz, J.M.O. (1971). Geleophysic dwarfism: A "focal" mucopolysaccharidosis? Lancet 2: 97-98.Spranger, J.W., Gilbert, E.F., Arya, S., Hoganson, G. and Opitz, J.M. (1984). Geleophysic dysplasia. Am. J. Med. Genet. 19: 487-499.Wraith, J.E., Bankier, A., Chow, C.W., Danks, M. and Sardharwalla, I.B. (1990). Geleophysic dysplasia. Am. J. Med. Genet. 35: 153-156.Geleophysic dysplasia: report on two sibsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleAnormalidades MúltiplasAberrações CromossômicasTranstornos do CrescimentoGlicoproteínasinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALGeleophysic dysplasia - Report on.pdfGeleophysic dysplasia - Report on.pdfapplication/pdf630001https://www.arca.fiocruz.br/bitstream/icict/6333/1/Geleophysic%20dysplasia%20-%20Report%20on.pdf80977c7415c8cd344c026c428af758dfMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6333/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTGeleophysic dysplasia - Report on.pdf.txtGeleophysic dysplasia - Report on.pdf.txtExtracted texttext/plain11921https://www.arca.fiocruz.br/bitstream/icict/6333/5/Geleophysic%20dysplasia%20-%20Report%20on.pdf.txtd2aa6f1ec3fc2a12dd44b82fb2f2d998MD55THUMBNAILGeleophysic dysplasia - Report on.pdf.jpgGeleophysic dysplasia - Report on.pdf.jpgGenerated Thumbnailimage/jpeg2144https://www.arca.fiocruz.br/bitstream/icict/6333/4/Geleophysic%20dysplasia%20-%20Report%20on.pdf.jpgd042a5fa97b4f377c56aab0a8a18cc89MD54icict/63332018-04-06 08:50:33.742oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-04-06T11:50:33Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Geleophysic dysplasia: report on two sibs
title Geleophysic dysplasia: report on two sibs
spellingShingle Geleophysic dysplasia: report on two sibs
Boy, Raquel
Anormalidades Múltiplas
Aberrações Cromossômicas
Transtornos do Crescimento
Glicoproteínas
title_short Geleophysic dysplasia: report on two sibs
title_full Geleophysic dysplasia: report on two sibs
title_fullStr Geleophysic dysplasia: report on two sibs
title_full_unstemmed Geleophysic dysplasia: report on two sibs
title_sort Geleophysic dysplasia: report on two sibs
author Boy, Raquel
author_facet Boy, Raquel
Llerena Junior, Juan Clinton
Pimentel, Maria Mattos Gonçalves
Almeida, José Carlos Cabral de
author_role author
author2 Llerena Junior, Juan Clinton
Pimentel, Maria Mattos Gonçalves
Almeida, José Carlos Cabral de
author2_role author
author
author
dc.contributor.author.fl_str_mv Boy, Raquel
Llerena Junior, Juan Clinton
Pimentel, Maria Mattos Gonçalves
Almeida, José Carlos Cabral de
dc.subject.decs.pt_BR.fl_str_mv Anormalidades Múltiplas
Aberrações Cromossômicas
Transtornos do Crescimento
Glicoproteínas
topic Anormalidades Múltiplas
Aberrações Cromossômicas
Transtornos do Crescimento
Glicoproteínas
description Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado.
publishDate 1998
dc.date.issued.fl_str_mv 1998
dc.date.accessioned.fl_str_mv 2013-02-22T19:51:02Z
dc.date.available.fl_str_mv 2013-02-22T19:51:02Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.citation.fl_str_mv BOY, Raquel et al. Geleophysic dysplasia: report on two sibs. Genet. Mol. Biol. Ribeirão Preto, v. 21, n. 1, mar. 1998.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6333
dc.identifier.doi.none.fl_str_mv 10.1590/S1415-47571998000100027
identifier_str_mv BOY, Raquel et al. Geleophysic dysplasia: report on two sibs. Genet. Mol. Biol. Ribeirão Preto, v. 21, n. 1, mar. 1998.
10.1590/S1415-47571998000100027
url https://www.arca.fiocruz.br/handle/icict/6333
dc.language.iso.fl_str_mv eng
language eng
dc.relation.isbasedon.pt_BR.fl_str_mv Koiffman, C.P., Wajntal, A., Ursich, M.J.M. and Pupo, A.A. (1984). Familial recurrence of geleophysic dysplasia. Am. J. Med. Genet. 19: 483-486.
Lipson, A.H., Khan, A.E. and Kozlowski, K. (1987). Geleophysic dysplasia-acromicric dysplasia with evidence of glycoprotein storage. Am. J. Med. Genet. 3 (Suppl.): 181-189.
Pontz, B.F., Stöb, H., Henschke, F., Freisinger, P., Karbowski, A. and Spranger, J. (1996). Clinical and ultrastructural findings in three patients with Geleophysic dysplasia. Am. J. Med. Genet. 63: 50-54.
Rosser, E.M., Wilkinson, A.R., Hurst, J.A., McGaughran, J.M. and Donnai, D. (1995). Geleophysic dysplasia: report of three affected boys - prenatal ultrasound does not detect recurrence. Am. J. Med. Genet. 58: 217-222.
Shohat, M., Gruber, H.E. and Payon, R.A. (1989). Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart and trachea. J. Med. Genet. 26: 320-325.
Spranger, J.W., Gilbert, E.F., Tuffli, G.A., Rossiter, F.P. and Opitz, J.M.O. (1971). Geleophysic dwarfism: A "focal" mucopolysaccharidosis? Lancet 2: 97-98.
Spranger, J.W., Gilbert, E.F., Arya, S., Hoganson, G. and Opitz, J.M. (1984). Geleophysic dysplasia. Am. J. Med. Genet. 19: 487-499.
Wraith, J.E., Bankier, A., Chow, C.W., Danks, M. and Sardharwalla, I.B. (1990). Geleophysic dysplasia. Am. J. Med. Genet. 35: 153-156.
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