Publicação: Acheiropodia: report on four new Brazilian patients
| dc.contributor.author | Fett-Conte, A. C. [UNESP] | |
| dc.contributor.author | Richieri-Costa, A. | |
| dc.contributor.institution | Universidade Estadual Paulista (Unesp) | |
| dc.contributor.institution | Universidade de São Paulo (USP) | |
| dc.date.accessioned | 2015-12-07T15:29:15Z | |
| dc.date.available | 2015-12-07T15:29:15Z | |
| dc.date.issued | 1990 | |
| dc.description.abstract | We report on 4 new patients with acheiropodia (the handless and footless families of Brazil). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia. | en |
| dc.description.affiliation | Departamento de Biologia, Instituto de Biociencias, Letras e Ciências Exatas, UNESP, São José do Rio Preto, SP, Brazil (ACF-C) | |
| dc.description.affiliation | Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lessões Labio-Palatais, USP, Bauru, SP, Brazil (AR -C) | |
| dc.description.affiliationUnesp | Departamento de Biologia, Instituto de Biociencias, Letras e Ciências Exatas, UNESP, São José do Rio Preto, SP, Brazil (ACF-C) | |
| dc.format.extent | 341-344 | |
| dc.identifier | http://dx.doi.org/10.1002/ajmg.1320360320 | |
| dc.identifier.citation | American Journal Of Medical Genetics, v. 36, n. 3, p. 341-344, 1990. | |
| dc.identifier.doi | 10.1002/ajmg.1320360320 | |
| dc.identifier.issn | 0148-7299 | |
| dc.identifier.pubmed | 2363435 | |
| dc.identifier.uri | http://hdl.handle.net/11449/130774 | |
| dc.language.iso | eng | |
| dc.relation.ispartof | American Journal Of Medical Genetics | |
| dc.rights.accessRights | Acesso restrito | |
| dc.source | PubMed | |
| dc.subject | Acheiropodia | en |
| dc.subject | Limb congenital anomaly | en |
| dc.subject | Autosomal recessive inheritance | en |
| dc.subject | Consanguinity | en |
| dc.title | Acheiropodia: report on four new Brazilian patients | en |
| dc.type | Artigo | |
| dspace.entity.type | Publication | |
| unesp.campus | Universidade Estadual Paulista (UNESP), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Preto | pt |
| unesp.department | Biologia - IBILCE | pt |