Cryptophthalmos in Two Families from Bahia, Brazil

Detalhes bibliográficos
Autor(a) principal: Azevedo, Eliane Elisa de Souza e
Data de Publicação: 1973
Outros Autores: Biondi, Jesulino, Ramalho, Luiz M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13347
Resumo: p. 389-392
id UFBA-2_ddd932de5cdfb5992934bf3f681b92be
oai_identifier_str oai:repositorio.ufba.br:ri/13347
network_acronym_str UFBA-2
network_name_str Repositório Institucional da UFBA
repository_id_str 1932
spelling Azevedo, Eliane Elisa de Souza eBiondi, JesulinoRamalho, Luiz M.Azevedo, Eliane Elisa de Souza eBiondi, JesulinoRamalho, Luiz M.2013-10-30T17:57:03Z2013-10-30T17:57:03Z1973http://repositorio.ufba.br/ri/handle/ri/13347p. 389-392Two families with cryptophthalmos are reported. Both families came from the same town in Bahia State, Brazil. Consanguinity was known between the parents themselves, but not between the individual families reported here. However, a common ancestor for both families is very likely because the four parents were born in the same `municipio'. There was one affected girl in family 1 and four affected sibs in family 2. A pair of affected monozygotic twins and a case of possible low expressivity of the syndrome are described in family 2.Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-10-07T18:30:45Z No. of bitstreams: 1 22222.pdf: 1092346 bytes, checksum: 886b136d4fcd38a7f39ec17c3ac9a533 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-10-30T17:57:03Z (GMT) No. of bitstreams: 1 22222.pdf: 1092346 bytes, checksum: 886b136d4fcd38a7f39ec17c3ac9a533 (MD5)Made available in DSpace on 2013-10-30T17:57:03Z (GMT). No. of bitstreams: 1 22222.pdf: 1092346 bytes, checksum: 886b136d4fcd38a7f39ec17c3ac9a533 (MD5) Previous issue date: 1973SalvadorJornal of medical genetics10.1136/jmg.10.4.389reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBACryptophthalmos in Two Families from Bahia, BrazilJornal of medical geneticsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINAL22222.pdf22222.pdfapplication/pdf1092346https://repositorio.ufba.br/bitstream/ri/13347/1/22222.pdf886b136d4fcd38a7f39ec17c3ac9a533MD51LICENSElicense.txtlicense.txttext/plain1365https://repositorio.ufba.br/bitstream/ri/13347/2/license.txt5371a150bdc863f78dcf39281543bd86MD52TEXT22222.pdf.txt22222.pdf.txtExtracted texttext/plain11912https://repositorio.ufba.br/bitstream/ri/13347/3/22222.pdf.txt327332fc264066418ca54563d0b7626bMD53ri/133472022-07-05 14:03:10.609oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:10Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Cryptophthalmos in Two Families from Bahia, Brazil
dc.title.alternative.pt_BR.fl_str_mv Jornal of medical genetics
title Cryptophthalmos in Two Families from Bahia, Brazil
spellingShingle Cryptophthalmos in Two Families from Bahia, Brazil
Azevedo, Eliane Elisa de Souza e
title_short Cryptophthalmos in Two Families from Bahia, Brazil
title_full Cryptophthalmos in Two Families from Bahia, Brazil
title_fullStr Cryptophthalmos in Two Families from Bahia, Brazil
title_full_unstemmed Cryptophthalmos in Two Families from Bahia, Brazil
title_sort Cryptophthalmos in Two Families from Bahia, Brazil
author Azevedo, Eliane Elisa de Souza e
author_facet Azevedo, Eliane Elisa de Souza e
Biondi, Jesulino
Ramalho, Luiz M.
author_role author
author2 Biondi, Jesulino
Ramalho, Luiz M.
author2_role author
author
dc.contributor.author.fl_str_mv Azevedo, Eliane Elisa de Souza e
Biondi, Jesulino
Ramalho, Luiz M.
Azevedo, Eliane Elisa de Souza e
Biondi, Jesulino
Ramalho, Luiz M.
description p. 389-392
publishDate 1973
dc.date.issued.fl_str_mv 1973
dc.date.accessioned.fl_str_mv 2013-10-30T17:57:03Z
dc.date.available.fl_str_mv 2013-10-30T17:57:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13347
url http://repositorio.ufba.br/ri/handle/ri/13347
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Jornal of medical genetics
publisher.none.fl_str_mv Jornal of medical genetics
dc.source.pt_BR.fl_str_mv 10.1136/jmg.10.4.389
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
instacron:UFBA
instname_str Universidade Federal da Bahia (UFBA)
instacron_str UFBA
institution UFBA
reponame_str Repositório Institucional da UFBA
collection Repositório Institucional da UFBA
bitstream.url.fl_str_mv https://repositorio.ufba.br/bitstream/ri/13347/1/22222.pdf
https://repositorio.ufba.br/bitstream/ri/13347/2/license.txt
https://repositorio.ufba.br/bitstream/ri/13347/3/22222.pdf.txt
bitstream.checksum.fl_str_mv 886b136d4fcd38a7f39ec17c3ac9a533
5371a150bdc863f78dcf39281543bd86
327332fc264066418ca54563d0b7626b
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)
repository.mail.fl_str_mv
_version_ 1808459461853970432