Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. [electronic resource]
Producer: 20030331Description: 1033-43 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple -- embryology
- Brain -- abnormalities
- Child, Preschool
- Chromosome Mapping
- Cytoskeletal Proteins -- metabolism
- DNA Mutational Analysis
- Dystroglycans
- Eye Abnormalities -- genetics
- Female
- Fetal Death
- Glycosylation
- Humans
- Immunohistochemistry
- Infant
- Male
- Mannosyltransferases -- genetics
- Membrane Glycoproteins -- metabolism
- Molecular Sequence Data
- Pedigree
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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