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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...
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| Publicado no: | Autopsy and Case Reports |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hospital Universitário da Universidade de São Paulo
2019
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| Assuntos: | |
| Acesso em linha: | https://www.redalyc.org/articulo.oa?id=576067499014 https://www.redalyc.org/journal/5760/576067499014/ https://www.redalyc.org/journal/5760/576067499014/html/ https://www.redalyc.org/journal/5760/576067499014/576067499014.epub https://www.redalyc.org/journal/5760/576067499014/movil |
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