Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family

Basit Öğe Kaydı
dc.contributor.authorKasirga, E
dc.contributor.authorÖzkınay, F
dc.contributor.authorTutuncuoglu, S
dc.contributor.authorAydogdu, S
dc.contributor.authorColakoglu, Z
dc.contributor.authorMusoglu, A
dc.contributor.authorYagci, A
dc.contributor.authorTaneli, B
dc.contributor.authorYagci, RV
dc.date.accessioned2019-10-27T11:55:35Z
dc.date.available2019-10-27T11:55:35Z
dc.date.issued1996
dc.departmentEge Üniversitesien_US
dc.description.abstractFour siblings with achalasia, alacrimia and other problems involving the autonomic nervous system involvements are reported. Achalasia and alacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showed that autonomic dysfunction has progressed with age. Blood cortisol levels were normal in all four affected children. Depending on these findings of our cases and previous reports, we conclude that triple-A syndrome and achalasia, alacrimia with or without neurological abnormalities could be variable manifestations of the same autosomal recessive gene defect.en_US
dc.identifier.endpage299en_US
dc.identifier.issn0009-9163
dc.identifier.issue6en_US
dc.identifier.pmid8884077en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage296en_US
dc.identifier.urihttps://hdl.handle.net/11454/35157
dc.identifier.volume49en_US
dc.identifier.wosWOS:A1996VH28000003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMunksgaard Int Publ Ltden_US
dc.relation.ispartofClinical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectachalasiaen_US
dc.subjectalacrimiaen_US
dc.subjectautosomal recessive inheritanceen_US
dc.subjectfamilial dysautonomia (Riley-Day syndrome)en_US
dc.subjectglucocorticoid deficiencyen_US
dc.titleFour siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous familyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu