establishing the role of plvap in protein losing enteropathy

A homozygous missense variant leads to an attenuated phenotype

Rambam medical center report on familial whole-exome sequencing analysis, performed using Genoox software, to reveal a homozygous mutation in the PLVAP gene (c.101T>C). This variant was found to be co-segregated with a severe congenital protein-losing enteropathy (PLE).

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