Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study

• Main Authors: Naglaa M. Kamal (Author), Omar I. Saadah (Author), Shahad S. Alheraiti (Author), Ruwayd Attar (Author), Asmaa D. Alsufyani (Author), Moratda H.F. El-Shabrawi (Author), Laila M. Sherief (Author)
• Format: Book
• Published: SAGE Publishing, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...