Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.
- Autores:
-
Ruiz Botero, Felipe
Pachajoa Londoño, Harry Mauricio
- 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:10906/81388
- Acceso en línea:
- http://nebulosa.icesi.edu.co:2143/full_record.do?product=WOS&search_mode=GeneralSearch&qid=3&SID=2CbwvazXqwgCYDqXqeM&page=1&doc=1
http://hdl.handle.net/10906/81388
http://dx.doi.org/10.1111/cga.12146
- Palabra clave:
- Ciencias socio biomédicas
Medical sciences
Discapacidad
Enfermedades genéticas
Malformaciones congénitas
Hipoplasia
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
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Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| title |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| spellingShingle |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia Ciencias socio biomédicas Medical sciences Discapacidad Enfermedades genéticas Malformaciones congénitas Hipoplasia |
| title_short |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| title_full |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| title_fullStr |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| title_full_unstemmed |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| title_sort |
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
| dc.creator.fl_str_mv |
Ruiz Botero, Felipe Pachajoa Londoño, Harry Mauricio |
| dc.contributor.author.spa.fl_str_mv |
Ruiz Botero, Felipe Pachajoa Londoño, Harry Mauricio |
| dc.subject.proposal.spa.fl_str_mv |
Ciencias socio biomédicas Medical sciences Discapacidad Enfermedades genéticas Malformaciones congénitas Hipoplasia |
| topic |
Ciencias socio biomédicas Medical sciences Discapacidad Enfermedades genéticas Malformaciones congénitas Hipoplasia |
| description |
Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia. |
| publishDate |
2016 |
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2016-05-01 |
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2017-05-02T15:26:10Z |
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2017-05-02T15:26:10Z |
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http://hdl.handle.net/10906/81388 |
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http://dx.doi.org/10.1111/cga.12146 |
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eng |
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eng |
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Congenital Anomalies, Vol. 56, No.3 - 2016 |
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138 |
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140 |
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3 páginas |
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New York Lat: 43 00 00 N degrees minutes Lat: 43.0000 decimal degrees Long: 075 00 00 W degrees minutes Long: -75.0000 decimal degrees |
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Wiley-Blackwel |
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Facultad de Ciencias Naturales |
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Ciencias de la Salud |
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Departamento de Ciencias Básicas Médicas |
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New York |
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Ruiz Botero, FelipePachajoa Londoño, Harry Mauriciohmpachajoa@icesi.edu.coNew York Lat: 43 00 00 N degrees minutes Lat: 43.0000 decimal degrees Long: 075 00 00 W degrees minutes Long: -75.0000 decimal degrees2017-05-02T15:26:10Z2017-05-02T15:26:10Z2016-05-010914-3505http://nebulosa.icesi.edu.co:2143/full_record.do?product=WOS&search_mode=GeneralSearch&qid=3&SID=2CbwvazXqwgCYDqXqeM&page=1&doc=1http://hdl.handle.net/10906/81388http://dx.doi.org/10.1111/cga.12146instname:Universidad Icesireponame:Biblioteca Digitalrepourl:https://repository.icesi.edu.co/Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.3 páginasDigitalengWiley-BlackwelFacultad de Ciencias NaturalesCiencias de la SaludDepartamento de Ciencias Básicas MédicasNew YorkCongenital Anomalies, Vol. 56, No.3 - 2016138140EL 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 Todo 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_abf2Novel PORCN mutation in a severe case of Focal Dermal HypoplasiaComunidad Universidad Icesi - Investigadores563Ciencias socio biomédicasMedical sciencesDiscapacidadEnfermedades genéticasMalformaciones congénitasHipoplasiahttp://purl.org/coar/resource_type/c_2df8fbb1Artículoinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleLICENSElicense.txtlicense.txttext/plain1783https://repository.icesi.edu.co/bitstreams/5f9b8cf2-910a-7785-e053-2cc003c84dc5/downloada9bf6c9d51cc761c4b473f39f5bcb2eaMD55CC-LICENSElicense_urllicense_urltext/plain49https://repository.icesi.edu.co/bitstreams/5f9b8cf2-9107-7785-e053-2cc003c84dc5/download4afdbb8c545fd630ea7db775da747b2fMD52license_textlicense_textapplication/octet-stream0https://repository.icesi.edu.co/bitstreams/5f9b8cf2-9108-7785-e053-2cc003c84dc5/downloadd41d8cd98f00b204e9800998ecf8427eMD53license_rdflicense_rdfapplication/octet-stream0https://repository.icesi.edu.co/bitstreams/5f9b8cf2-9109-7785-e053-2cc003c84dc5/downloadd41d8cd98f00b204e9800998ecf8427eMD54ORIGINALramirez_novelporcn_mutation_2016.pdframirez_novelporcn_mutation_2016.pdfapplication/pdf1129381https://repository.icesi.edu.co/bitstreams/279d9c0f-0c66-4a7a-b6dc-61fc497349d0/downloadbe1a621bc0bc85572dd809e140cf1020MD5610906/81388oai:repository.icesi.edu.co:10906/813882018-10-19 08:45:48.674https://creativecommons.org/licenses/by-nc-nd/4.0/Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)open.accesshttps://repository.icesi.edu.coBiblioteca Digital - Universidad Icesiadquisicion-bib@listas.icesi.edu.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 |