Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study
Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed. Patients and methods: A 3-year-old girl presented with abundant...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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SAGE Publishing,
2022-03-01T00:00:00Z.
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