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Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

OBJECTIVE: To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. CLINICAL PRESENTATION AND INTERVENTION: PJS was suspected in 3 families with tortuous medical cours...

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Detalles Bibliográficos
Autores principales: Jiang, Yu-Liang, Xu, Xiao-Dong, Li, Bai-Rong, Yu, En-Da, Zhao, Zi-Ye, Liu, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186215/
https://www.ncbi.nlm.nih.gov/pubmed/34103092
http://dx.doi.org/10.1186/s13023-021-01900-7