Genotype–Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin–Johnson Syndrome: A Case Report

We report a case of a patient with Dubin–Johnson syndrome confirmed by a genetic study. A 50-year-old woman who had symptoms of intermittent right upper quadrant abdominal pain was diagnosed with calculous cholecystitis at another institute and was presented to our hospital for a cholecystectomy. Sh...

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Detalles Bibliográficos
Autores principales: Kim, Ji-Hoon, Kang, Min-Woo, Kim, Sangmi, Han, Ji Won, Jang, Jeong Won, Choi, Jong Young, Yoon, Seung Kew, Sung, Pil Soo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781201/
https://www.ncbi.nlm.nih.gov/pubmed/36555809
http://dx.doi.org/10.3390/ijms232416168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9781201/
https://www.ncbi.nlm.nih.gov/pubmed/36555809
http://dx.doi.org/10.3390/ijms232416168

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