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Article

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

International journal of molecular sciences - 18 Dec 2022

Kim Ji-Hoon, Kang Min-Woo, Kim Sangmi, Han Ji Won, Jang Jeong Won, Choi Jong Young, Yoon Seung Kew, Sung Pil Soo

Abstract excerpt

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. She had no history of liver disease, and her physical examination was normal. Abdominal computed tomography showed a...

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Identifiers

PMID: 36555809
DOI: 10.3390/ijms232416168
PMCID: PMC9781201

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