TY  - GEN
AU  - Kvarnung,Malin
AU  - Nilsson,Daniel
AU  - Lindstrand,Anna
AU  - Korenke,G Christoph
AU  - Chiang,Samuel C C
AU  - Blennow,Elisabeth
AU  - Bergmann,Markus
AU  - Stödberg,Tommy
AU  - Mäkitie,Outi
AU  - Anderlid,Britt-Marie
AU  - Bryceson,Yenan T
AU  - Nordenskjöld,Magnus
AU  - Nordgren,Ann
TI  - A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
SN  - 1468-6244
PY  - 2014///0218
KW  - Animals
KW  - Animals, Genetically Modified
KW  - Child, Preschool
KW  - Consanguinity
KW  - Embryo, Nonmammalian
KW  - metabolism
KW  - Female
KW  - Flow Cytometry
KW  - Glycosylphosphatidylinositols
KW  - deficiency
KW  - Hemoglobinuria, Paroxysmal
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Pedigree
KW  - Seizures
KW  - Syndrome
KW  - Zebrafish
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2013-101654
ER  -