A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. [electronic resource]
Producer: 20140218Description: 521-8 p. digitalISSN:- 1468-6244
- Animals
- Animals, Genetically Modified
- Child, Preschool
- Consanguinity
- Embryo, Nonmammalian -- metabolism
- Female
- Flow Cytometry
- Glycosylphosphatidylinositols -- deficiency
- Hemoglobinuria, Paroxysmal -- genetics
- Homozygote
- Humans
- Intellectual Disability -- genetics
- Muscle Hypotonia -- genetics
- Mutation
- Pedigree
- Seizures -- genetics
- Syndrome
- Zebrafish -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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