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The first Turkish family with Rotor syndrome diagnosed at the molecular level

E. Gümüş, M. Karaca, U. Deveci, M. Jirsa

. 2020 ; 55 (4) : 430-433. [pub] 20201216

Jazyk angličtina Země Turecko

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc21010223

Rotor syndrome is defined as a self-limiting hyperbilirubinemia characterized by jaundice that does not need treatment, cause any morbidity or affect life expectancy. As far as the literature is evaluated, the number of patients with Rotor syndrome diagnosed at the molecular level is less than 20 until today. In this case presentation, we aimed to present two siblings with Rotor syndrome who were diagnosed at the molecular level. To the nest of our knowledge, these patients are the first Turkish patients with Rotor syndrome diagnosed at the molecular level.

Citace poskytuje Crossref.org

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