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Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation
Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771443/ https://www.ncbi.nlm.nih.gov/pubmed/31641664 http://dx.doi.org/10.4322/acr.2019.124 |