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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of São Paulo
2019-10-01
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| Series: | Autopsy and Case Reports |
| Subjects: | |
| Online Access: | http://www.revistas.usp.br/autopsy/article/view/162885 |