PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat, Allan
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 10 2019 - 2216-2223 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0512-3 doi
Abnormalities, Multiple--genetics
Acyltransferases--genetics
Child
Child, Preschool
Developmental Disabilities--genetics
Epilepsy--genetics
Female
Genetic Association Studies
Genotype
Glycosylphosphatidylinositols--deficiency
Homozygote
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Seizures--genetics
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 10 2019 - 2216-2223 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0512-3 doi
Abnormalities, Multiple--genetics
Acyltransferases--genetics
Child
Child, Preschool
Developmental Disabilities--genetics
Epilepsy--genetics
Female
Genetic Association Studies
Genotype
Glycosylphosphatidylinositols--deficiency
Homozygote
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Seizures--genetics