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Achalasia familiar : report of a family with an autosomal dominant pattern of inherence

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dc.contributor.authorGordillo Gonzalez, Gisel
dc.contributor.authorGuatibonza, Yeinny Pilar
dc.contributor.authorZarante, Ignacio
dc.contributor.authorRoa, Paola
dc.contributor.authorJacome, L. A.
dc.contributor.authorHani, A.
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.date.accessioned2020-03-28T02:04:56Z
dc.date.accessioned2020-04-15T13:32:24Z
dc.date.available2020-03-28T02:04:56Z
dc.date.available2020-04-15T13:32:24Z
dc.date.created2011-01
dc.description.abstractenglishEsophageal achalasia is a well-known pathology with an autosomal recessive pattern of inherence described in the familiar cases. Its principal symptom is dysphagia, secondary to the poor relaxation of the lower esophageal sphincter. Chagas disease is one of the many causes involved in the development of this disease, being of great importance in our country because of the high prevalence of the vector. Various syndromes include achalasia in their symptomatology, such as the triple A syndrome or Allgrove syndrome (Addisonianism, achalasia, and alacrimia). We reported a family with a classical autosomal pattern of inherence with six affected members, four men and two women, with achalasia diagnosis as well as esophagus cancer in two of them, secondary to the disease, and no other findingsspa
dc.description.paginasE1-E4spa
dc.description.quartilescopusQ1spa
dc.description.quartilewosQ3spa
dc.description.tipoarticuloReporte de casospa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.format.soportePapel / Electrónicospa
dc.identifierhttps://apps-webofknowledge-com.ezproxy.javeriana.edu.co/full_record.do?product=WOS&search_mode=GeneralSearch&qid=38&SID=8Ei8uehaOVWNEWhnnRL&page=1&doc=1spa
dc.identifier.doihttps://doi.org/10.1111/j.1442-2050.2010.01124.xspa
dc.identifier.issn1120-8694 / 1442-2050spa
dc.identifier.urihttp://hdl.handle.net/10554/47890
dc.languagespaspa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceDiseases of the Esophagus; Vol. 24 Núm. 1 (2011)spa
dc.subject.keywordAchalasiaspa
dc.subject.keywordDominant genetic conditionsspa
dc.subject.keywordEsophageal achalasiaspa
dc.subject.keywordEsophagusspa
dc.subject.keywordFmiliar esophageal achalasiaspa
dc.titleAchalasia familiar : report of a family with an autosomal dominant pattern of inherencespa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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