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

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 un...

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Autores principales: Gümüş, Evren, Karaca, Meryem, Deveci, Uğur, Jirsa, Milan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
Materias:
Case Report / Olgu Sunumu
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750336/
https://www.ncbi.nlm.nih.gov/pubmed/33414662
http://dx.doi.org/10.14744/TurkPediatriArs.2019.55798
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author Gümüş, Evren
Karaca, Meryem
Deveci, Uğur
Jirsa, Milan
author_facet Gümüş, Evren
Karaca, Meryem
Deveci, Uğur
Jirsa, Milan
author_sort Gümüş, Evren
collection PubMed
description 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.
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spelling pubmed-77503362021-01-06 The first Turkish family with Rotor syndrome diagnosed at the molecular level Gümüş, Evren Karaca, Meryem Deveci, Uğur Jirsa, Milan Turk Pediatri Ars Case Report / Olgu Sunumu 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. Kare Publishing 2020-12-16 /pmc/articles/PMC7750336/ /pubmed/33414662 http://dx.doi.org/10.14744/TurkPediatriArs.2019.55798 Text en Copyright: © 2020 Turkish Archives of Pediatrics http://creativecommons.org/licenses/by-nc-sa/4.0 This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License
spellingShingle Case Report / Olgu Sunumu
Gümüş, Evren
Karaca, Meryem
Deveci, Uğur
Jirsa, Milan
The first Turkish family with Rotor syndrome diagnosed at the molecular level
title The first Turkish family with Rotor syndrome diagnosed at the molecular level
title_full The first Turkish family with Rotor syndrome diagnosed at the molecular level
title_fullStr The first Turkish family with Rotor syndrome diagnosed at the molecular level
title_full_unstemmed The first Turkish family with Rotor syndrome diagnosed at the molecular level
title_short The first Turkish family with Rotor syndrome diagnosed at the molecular level
title_sort first turkish family with rotor syndrome diagnosed at the molecular level
topic Case Report / Olgu Sunumu
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750336/
https://www.ncbi.nlm.nih.gov/pubmed/33414662
http://dx.doi.org/10.14744/TurkPediatriArs.2019.55798
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