TY  - GEN
AU  - Broekaert,Ilse Julia
AU  - Becker,Kerstin
AU  - Gottschalk,Ingo
AU  - Körber,Friederike
AU  - Dötsch,Jörg
AU  - Thiele,Holger
AU  - Altmüller,Janine
AU  - Nürnberg,Peter
AU  - Hünseler,Christoph
AU  - Cirak,Sebahattin
TI  - Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy
SN  - 1468-6244
PY  - 2019///1017
KW  - Carrier Proteins
KW  - genetics
KW  - Fatal Outcome
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Protein-Losing Enteropathies
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2018-105262
ER  -