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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Detalles Bibliográficos
Autores principales: Kamal, Naglaa M., Saadah, Omar I., Alheraiti, Shahad S., Attar, Ruwayd, Alsufyani, Asmaa D., El-Shabrawi, Moratda H.F., Sherief, Laila M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905215/
https://www.ncbi.nlm.nih.gov/pubmed/35284057
http://dx.doi.org/10.1177/20406223221078757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905215/
https://www.ncbi.nlm.nih.gov/pubmed/35284057
http://dx.doi.org/10.1177/20406223221078757

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