Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno

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dc.catalogadorvdr
dc.contributor.authorDelgado García, José Fröbel
dc.contributor.authorPerez E., María Javiera
dc.contributor.authorDelgado, Dasha
dc.contributor.authorLagos, Carlos
dc.contributor.authorBaudrand Biggs, René
dc.contributor.authorUslar N., Thomas
dc.date.accessioned2024-11-21T12:30:52Z
dc.date.available2024-11-21T12:30:52Z
dc.date.issued2022
dc.description.abstractUp to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.
dc.fechaingreso.objetodigital2024-11-21
dc.format.extent4 páginas
dc.fuente.origenScopus
dc.fuente.origenORCID
dc.identifier.doi10.4067/S0034-98872022000801115
dc.identifier.doi0034-9887
dc.identifier.issn07176163 00349887
dc.identifier.scopusidSCOPUS_ID:85158928497
dc.identifier.urihttp://doi.org/10.4067/s0034-98872022000801115
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/88628
dc.information.autorucEscuela de Medicina; Delgado García, José Fröbel; 0000-0002-1865-7196; 218702
dc.information.autorucEscuela de Medicina; Perez E., María Javiera; 0000-0001-5410-2860; 1018031
dc.information.autorucEscuela de Medicina; Baudrand Biggs, René; 0000-0002-8655-4957; 1024
dc.information.autorucEscuela de Medicina; Uslar N., Thomas; 0000-0001-7213-855X; 187161
dc.issue.numero8
dc.language.isoes
dc.nota.accesocontenido completo
dc.pagina.final1118
dc.pagina.inicio1115
dc.revistaRevista Médica de Chile
dc.rightsacceso abierto
dc.rights.licenseCC BY 4.0 Attribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.en
dc.subjectAdrenal Incidentaloma
dc.subjectHuman
dc.subjectMutation
dc.subjectPheochromocytoma
dc.subjectTMEM127 protein
dc.subject.ddc610
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleReporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno
dc.title.alternativeBilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case
dc.typeartículo
dc.volumen150
sipa.codpersvinculados218702
sipa.codpersvinculados1018031
sipa.codpersvinculados1024
sipa.codpersvinculados187161
sipa.trazabilidadSCOPUS;2023-08-23
sipa.trazabilidadORCID;2024-11-18
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