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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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Detalles Bibliográficos
Autores principales: Khatri, Deepak, Gosal, Jaskaran S., Das, Kuntal K., Bhaisora, Kamlesh S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798283/
https://www.ncbi.nlm.nih.gov/pubmed/31649776
http://dx.doi.org/10.4103/jpn.JPN_33_19