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Article

Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report.

World journal of gastroenterology - 21 Aug 2023

He Cheng-Cheng, Wang Shan-Ping, Zhou Pei-Rong, Li Zhi-Jun, Li Na, Li Ming-Song

Abstract excerpt

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking. CASE SUMMARY: Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the...

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Identifiers

PMID: 37664155
DOI: 10.3748/wjg.v29.i31.4809
PMCID: PMC10473918

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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