MYT1 role in the microtia-craniofacial microsomia spectrum
Q3
- Autores:
-
Luquetti, Daniela V.
Heike, Carrie L.
Zarante, Ignacio
Timms, Andrew E.
Gustafson, Jonas
Pachajoa, Harry
Porras-Hurtado, Gloria L.
Ayala Ramírez, Paola
Duenas-Roque, Milagros M.
Jimenez, Natalia
Ibanez, Lina M.
Hurtado-Villa, Paula
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2020
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/52019
- Acceso en línea:
- https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1401
http://hdl.handle.net/10554/52019
https://doi.org/10.1002/mgg3.1401
- Palabra clave:
- Craniofacial microsomia
Genetics
Hemifacial microsomia
Microtia
Oculo-auriculo-vertebral spectrum
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| title |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| spellingShingle |
MYT1 role in the microtia-craniofacial microsomia spectrum Craniofacial microsomia Genetics Hemifacial microsomia Microtia Oculo-auriculo-vertebral spectrum |
| title_short |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| title_full |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| title_fullStr |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| title_full_unstemmed |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| title_sort |
MYT1 role in the microtia-craniofacial microsomia spectrum |
| dc.creator.fl_str_mv |
Luquetti, Daniela V. Heike, Carrie L. Zarante, Ignacio Timms, Andrew E. Gustafson, Jonas Pachajoa, Harry Porras-Hurtado, Gloria L. Ayala Ramírez, Paola Duenas-Roque, Milagros M. Jimenez, Natalia Ibanez, Lina M. Hurtado-Villa, Paula |
| dc.contributor.author.none.fl_str_mv |
Luquetti, Daniela V. Heike, Carrie L. Zarante, Ignacio Timms, Andrew E. Gustafson, Jonas Pachajoa, Harry Porras-Hurtado, Gloria L. Ayala Ramírez, Paola Duenas-Roque, Milagros M. Jimenez, Natalia Ibanez, Lina M. Hurtado-Villa, Paula |
| dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Zarante, Ignacio Ayala Ramírez, Paola |
| dc.subject.keyword.spa.fl_str_mv |
Craniofacial microsomia Genetics Hemifacial microsomia Microtia Oculo-auriculo-vertebral spectrum |
| topic |
Craniofacial microsomia Genetics Hemifacial microsomia Microtia Oculo-auriculo-vertebral spectrum |
| description |
Q3 |
| publishDate |
2020 |
| dc.date.accessioned.none.fl_str_mv |
2020-12-14T04:25:42Z |
| dc.date.available.none.fl_str_mv |
2020-12-14T04:25:42Z |
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2020-09-01 |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1401 |
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2324-9269 |
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http://hdl.handle.net/10554/52019 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1002/mgg3.1401 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
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https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1401 http://hdl.handle.net/10554/52019 https://doi.org/10.1002/mgg3.1401 |
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2324-9269 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
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eng |
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eng |
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1 |
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5 |
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Molecular Genetics & Genomic Medicine |
| dc.relation.citationvolume.spa.fl_str_mv |
8 |
| dc.relation.citationissue.spa.fl_str_mv |
10 |
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Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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Estados Unidos Colombia Perú |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Luquetti, Daniela V.Heike, Carrie L.Zarante, IgnacioTimms, Andrew E.Gustafson, JonasPachajoa, HarryPorras-Hurtado, Gloria L.Ayala Ramírez, PaolaDuenas-Roque, Milagros M.Jimenez, NataliaIbanez, Lina M.Hurtado-Villa, PaulaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaZarante, IgnacioAyala Ramírez, PaolaEstados UnidosColombiaPerú2020-12-14T04:25:42Z2020-12-14T04:25:42Z2020-09-01https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.14012324-9269http://hdl.handle.net/10554/52019https://doi.org/10.1002/mgg3.1401instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengMYT1 role in the microtia-craniofacial microsomia spectrumArtículo de revistahttp://purl.org/coar/resource_type/c_2df8fbb1Q3Q3Pacientes con Microsomía craneofacialBackground: Craniofacial microsomia (CFM), also known as the oculo-auriculovertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in MYT1 contributing to better understand the genotype and phenotype associated with mutations in this gene. Methods/Results: We conducted genetic analysis using whole-exome and -genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants. Sanger sequencing was used to confirm these mutations. Conclusion: We identified two additional individuals with CFM who carry rare variants in MYT1, further supporting the presumptive role of this gene in the CFM spectrum.https://orcid.org/0000-0002-0729-6866https://orcid.org/0000-0002-0141-1149https://orcid.org/0000-0003-3822-7780Revista Internacional - IndexadaBCraniofacial microsomiaGeneticsHemifacial microsomiaMicrotiaOculo-auriculo-vertebral spectrum15Molecular Genetics & Genomic Medicine810ORIGINALMYT1 role in the microtia sept 2020.pdfMYT1 role in the microtia sept 2020.pdfArtículoapplication/pdf390163http://repository.javeriana.edu.co/bitstream/10554/52019/1/MYT1%20role%20in%20the%20microtia%20sept%202020.pdf6dc453efabfb6b2f245f43ff3fae004eMD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/52019/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILMYT1 role in the microtia sept 2020.pdf.jpgMYT1 role in the microtia sept 2020.pdf.jpgIM Thumbnailimage/jpeg9896http://repository.javeriana.edu.co/bitstream/10554/52019/3/MYT1%20role%20in%20the%20microtia%20sept%202020.pdf.jpgc9815d0583a6eac7f2c0909d89ecfd3bMD53open access10554/52019oai:repository.javeriana.edu.co:10554/520192023-03-16 16:11:45.667Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |