Chronic Pancreatitis Caused by a Homozygous SPINK1 c.194 t 2T  C Variant and Pancreas Divisum in a 3-Year-Old Child-A Case Report

Katarzyna Zdanowicz; Miroslawa Uscinowicz; Magdalena RakowskaKatarzyna Wertheim-TysarowskaAgnieszka Magdalena RygielGrzegorz OraczDariusz Marek Lebensztejn

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Chronic Pancreatitis Caused by a Homozygous SPINK1 c.194 t 2T C Variant and Pancreas Divisum in a 3-Year-Old Child-A Case Report

机译：Chronic Pancreatitis Caused by a Homozygous SPINK1 c.194 t 2T C Variant and Pancreas Divisum in a 3-Year-Old Child-A Case Report

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摘要

Chronic pancreatitis (CP) is a rare disease in children. We describe the first case of a 3-year-old Caucasian patient with CP with the presence of a homozygous pathogenic variant c.194 t 2T>C in serine protease inhibitor, Kazal type 1 (SPINK1) and pancreas divisum.

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来源
《Journal of pediatric genetics》 |2022年第3期|232-235|共4页
作者
Katarzyna Zdanowicz; Miroslawa Uscinowicz; Magdalena RakowskaKatarzyna Wertheim-TysarowskaAgnieszka Magdalena RygielGrzegorz OraczDariusz Marek Lebensztejn;
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Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical;

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正文语种英语
中图分类儿科学;
关键词
SPINK1; pancreas divisum; children;

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Chronic Pancreatitis Caused by a Homozygous SPINK1 c.194 t 2T C Variant and Pancreas Divisum in a 3-Year-Old Child-A Case Report

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