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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2023
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| Materias: | |
| 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 |