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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...
Gorde:
| Argitaratua izan da: | Autops Case Rep |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6771443/ https://ncbi.nlm.nih.gov/pubmed/31641664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2019.124 |
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