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

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

Abstract 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 medica...

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Bibliographic Details
Main Authors: Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao, Hong Liu
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Peutz–Jeghers syndrome
STK11 gene
Hamartoma
Polyposis
Enteroscopy
Online Access:https://doi.org/10.1186/s13023-021-01900-7

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