Cryptophthalmos in Two Families from Bahia, Brazil
Autor(a) principal: | |
---|---|
Data de Publicação: | 1973 |
Outros Autores: | , |
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 |