TY  - GEN
AU  - Bayat,Allan
AU  - Knaus,Alexej
AU  - Juul,Annika Wollenberg
AU  - Dukic,Dejan
AU  - Gardella,Elena
AU  - Charzewska,Agnieszka
AU  - Clement,Emma
AU  - Hjalgrim,Helle
AU  - Hoffman-Zacharska,Dorota
AU  - Horn,Denise
AU  - Horton,Rachel
AU  - Hurst,Jane A
AU  - Josifova,Dragana
AU  - Larsen,Line H G
AU  - Lascelles,Karine
AU  - Obersztyn,Ewa
AU  - Pagnamenta,Alistair
AU  - Pal,Deb K
AU  - Pendziwiat,Manuela
AU  - Ryten,Mina
AU  - Taylor,Jenny
AU  - Vogt,Julie
AU  - Weber,Yvonne
AU  - Krawitz,Peter M
AU  - Helbig,Ingo
AU  - Kini,Usha
AU  - Møller,Rikke S
TI  - PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
SN  - 1530-0366
PY  - 2020///0317
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Acyltransferases
KW  - Child
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - Epilepsy
KW  - Female
KW  - Genetic Association Studies
KW  - Genotype
KW  - Glycosylphosphatidylinositols
KW  - deficiency
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Seizures
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41436-019-0512-3
ER  -