Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Journal of medical genetics

Alina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, …, Alan R Shuldiner, Gidon Berger, Hagit N Baris

• DOI: 10.1136/jmedgenet-2018-105299
• PMID: 29875123