Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.
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SUBMITTER: Zdanowicz K
PROVIDER: S-EPMC9385255 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
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Chronic pancreatitis caused by a Homozygous <i>SPINK1</i> c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.
Zdanowicz Katarzyna K Uscinowicz Miroslawa M Rakowska Magdalena M Wertheim-Tysarowska Katarzyna K Rygiel Agnieszka Magdalena AM Oracz Grzegorz G Lebensztejn Dariusz Marek DM
Journal of pediatric genetics 20201005 3
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 + 2T > C in <i>serine protease inhibitor, Kazal type 1</i> ( <i>SPINK1</i> ) and pancreas divisum. ...[more]
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Project description:Video 1EUS-guided rendezvous technique for pancreas divisum.
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