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Article

Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.

Medicina (Kaunas, Lithuania) - 3 Apr 2023

Seo Ji-In, Nishigori Chikako, Ahn Jung Jin, Ryu Jae Young, Lee Junglok, Lee Mu-Hyoung, Kim Su Kang, Jeong Ki-Heon

Abstract excerpt

A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p.Arg579Ter). While rs121965088 is associated with a poor prognosis, our patient presented with a milder phenotype. Hence, we conducted whole-exome sequencing in the patient and her...

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Identifiers

PMID: 37109656
DOI: 10.3390/medicina59040699
PMCID: PMC10144254

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