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Peter Plus Syndrome: A Neurosurgeon’s Perspective
Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and sym...
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| Publicado no: | J Pediatr Neurosci |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6798283/ https://ncbi.nlm.nih.gov/pubmed/31649776 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_33_19 |
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