Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient

Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate d...

Full description

Autores:
Pachajoa Londoño, Harry Mauricio
Ramirez-Botero, Andrés Felipe
Tipo de recurso:
Article of investigation
Fecha de publicación:
2016
Institución:
Universidad ICESI
Repositorio:
Repositorio ICESI
Idioma:
eng
OAI Identifier:
oai:repository.icesi.edu.co:10906/82296
Acceso en línea:
http://doi.wiley.com/10.1111/cga.12170
http://hdl.handle.net/10906/82296
http://dx.doi.org/10.1111/cga.12170
Palabra clave:
Malformaciones congénitas
Gen SOX2
Microftalmia sindrómica
Ciencias socio biomédicas
Biomedical sciences
Rights
openAccess
License
https://creativecommons.org/licenses/by-nc-nd/4.0/
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network_acronym_str ICESI2
network_name_str Repositorio ICESI
repository_id_str
spelling Pachajoa Londoño, Harry MauricioRamirez-Botero, Andrés Felipeaframirezbotero@hotmail.comhmpachajoa@icesi.edu.coHoboken, New Jersey de Lat: 40 44 00 N degrees minutes Lat: 40.7333 decimal degrees Long: 074 01 00 W degrees minutes Long: -74.0167 decimal degrees.2017-11-16T20:07:45Z2017-11-16T20:07:45Z2016-11-010914-3505http://doi.wiley.com/10.1111/cga.12170http://hdl.handle.net/10906/82296http://dx.doi.org/10.1111/cga.12170instname: Universidad Icesireponame: Biblioteca Digitalrepourl: https://repository.icesi.edu.co/Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.3 páginasDigitalapplication/pdfengWiley-BlackwellFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas MédicasHoboken, New JerseyCongenital Anomalies, Vol. 56, No. 6 - 2016EL AUTOR, expresa que la obra objeto de la presente autorización es original y la elaboró sin quebrantar ni suplantar los derechos de autor de terceros, y de tal forma, la obra es de su exclusiva autoría y tiene la titularidad sobre éste. PARÁGRAFO: en caso de queja o acción por parte de un tercero referente a los derechos de autor sobre el artículo, folleto o libro en cuestión, EL AUTOR, asumirá la responsabilidad total, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos, la Universidad Icesi actúa como un tercero de buena fe. Esta autorización, permite a la Universidad Icesi, de forma indefinida, para que en los términos establecidos en la Ley 23 de 1982, la Ley 44 de 1993, leyes y jurisprudencia vigente al respecto, haga publicación de este con fines educativos. Toda persona que consulte ya sea la biblioteca o en medio electrónico podrá copiar apartes del texto citando siempre la fuentes, es decir el título del trabajo y el autor.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)http://purl.org/coar/access_right/c_abf2Malformaciones congénitasGen SOX2Microftalmia sindrómicaCiencias socio biomédicasBiomedical sciencesSyndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patientinfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1Artículoinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85Comunidad Universidad Icesi – Investigadores566250252ORIGINALramirez_syndromic_microphthalmia_2016.pdframirez_syndromic_microphthalmia_2016.pdfapplication/pdf925224http://repository.icesi.edu.co/biblioteca_digital/bitstream/10906/82296/1/ramirez_syndromic_microphthalmia_2016.pdf8ce20d9530049ea32ebc84f7713c3e44MD5110906/82296oai:repository.icesi.edu.co:10906/822962018-10-19 17:31:15.805Biblioteca Digital - Universidad icesicdcriollo@icesi.edu.co
dc.title.none.fl_str_mv Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
title Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
spellingShingle Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
Malformaciones congénitas
Gen SOX2
Microftalmia sindrómica
Ciencias socio biomédicas
Biomedical sciences
title_short Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
title_full Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
title_fullStr Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
title_full_unstemmed Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
title_sort Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
dc.creator.fl_str_mv Pachajoa Londoño, Harry Mauricio
Ramirez-Botero, Andrés Felipe
dc.contributor.author.spa.fl_str_mv Pachajoa Londoño, Harry Mauricio
Ramirez-Botero, Andrés Felipe
dc.subject.spa.fl_str_mv Malformaciones congénitas
Gen SOX2
Microftalmia sindrómica
Ciencias socio biomédicas
topic Malformaciones congénitas
Gen SOX2
Microftalmia sindrómica
Ciencias socio biomédicas
Biomedical sciences
dc.subject.eng.fl_str_mv Biomedical sciences
description Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.
publishDate 2016
dc.date.issued.none.fl_str_mv 2016-11-01
dc.date.accessioned.none.fl_str_mv 2017-11-16T20:07:45Z
dc.date.available.none.fl_str_mv 2017-11-16T20:07:45Z
dc.type.eng.fl_str_mv info:eu-repo/semantics/article
dc.type.coar.none.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.local.spa.fl_str_mv Artículo
dc.type.version.eng.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.coarversion.none.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
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status_str publishedVersion
dc.identifier.issn.none.fl_str_mv 0914-3505
dc.identifier.other.none.fl_str_mv http://doi.wiley.com/10.1111/cga.12170
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10906/82296
dc.identifier.doi.none.fl_str_mv http://dx.doi.org/10.1111/cga.12170
dc.identifier.instname.none.fl_str_mv instname: Universidad Icesi
dc.identifier.reponame.none.fl_str_mv reponame: Biblioteca Digital
dc.identifier.repourl.none.fl_str_mv repourl: https://repository.icesi.edu.co/
identifier_str_mv 0914-3505
instname: Universidad Icesi
reponame: Biblioteca Digital
repourl: https://repository.icesi.edu.co/
url http://doi.wiley.com/10.1111/cga.12170
http://hdl.handle.net/10906/82296
http://dx.doi.org/10.1111/cga.12170
dc.language.iso.eng.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv Congenital Anomalies, Vol. 56, No. 6 - 2016
dc.rights.uri.none.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.accessrights.Eng.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.license.none.fl_str_mv Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
dc.rights.coar.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.extent.spa.fl_str_mv 3 páginas
dc.format.medium.spa.fl_str_mv Digital
dc.format.mimetype.eng.fl_str_mv application/pdf
dc.coverage.spatial.none.fl_str_mv Hoboken, New Jersey de Lat: 40 44 00 N degrees minutes Lat: 40.7333 decimal degrees Long: 074 01 00 W degrees minutes Long: -74.0167 decimal degrees.
dc.publisher.eng.fl_str_mv Wiley-Blackwell
dc.publisher.faculty.spa.fl_str_mv Facultad Ciencias de la Salud
dc.publisher.program.spa.fl_str_mv Medicina
dc.publisher.department.spa.fl_str_mv Departamento de Ciencias Básicas Médicas
dc.publisher.place.eng.fl_str_mv Hoboken, New Jersey
institution Universidad ICESI
bitstream.url.fl_str_mv http://repository.icesi.edu.co/biblioteca_digital/bitstream/10906/82296/1/ramirez_syndromic_microphthalmia_2016.pdf
bitstream.checksum.fl_str_mv 8ce20d9530049ea32ebc84f7713c3e44
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repository.name.fl_str_mv Biblioteca Digital - Universidad icesi
repository.mail.fl_str_mv cdcriollo@icesi.edu.co
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