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

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...

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Detalles Bibliográficos
Autores principales: He, Cheng-Cheng, Wang, Shan-Ping, Zhou, Pei-Rong, Li, Zhi-Jun, Li, Na, Li, Ming-Song
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473918/
https://www.ncbi.nlm.nih.gov/pubmed/37664155
http://dx.doi.org/10.3748/wjg.v29.i31.4809

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473918/
https://www.ncbi.nlm.nih.gov/pubmed/37664155
http://dx.doi.org/10.3748/wjg.v29.i31.4809

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