Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report

Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report

BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). Herein, we report a case of EKD in a patient with novel compound heterozygous TMPRSS15 mutations.Case presentationA 2-month-old fema...

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Bibliographic Details
Main Authors: Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
enterokinase deficiency
TMPRSS15
gene
children
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1484208/full
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