Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

Broekaert, Ilse Julia

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. [electronic resource] - Journal of medical genetics 09 2018 - 637-640 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2018-105262 doi


Carrier Proteins--genetics
Fatal Outcome
Homozygote
Humans
Infant, Newborn
Male
Membrane Proteins--genetics
Mutation
Protein-Losing Enteropathies--genetics
Exome Sequencing