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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

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