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Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.
Zdanowicz, Katarzyna; Uscinowicz, Miroslawa; Rakowska, Magdalena; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz; Lebensztejn, Dariusz Marek.
Afiliação
  • Zdanowicz K; Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland.
  • Uscinowicz M; Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland.
  • Rakowska M; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Wertheim-Tysarowska K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Oracz G; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Lebensztejn DM; Department of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland.
J Pediatr Genet ; 11(3): 232-235, 2022 Sep.
Article em En | MEDLINE | ID: mdl-35990036
ABSTRACT
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 serine protease inhibitor, Kazal type 1 ( SPINK1 ) and pancreas divisum.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2022 Tipo de documento: Article