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Walker-Warburg Syndrome: A Case with multiple uncommon features
Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKR...
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| Publicado no: | Sudan J Paediatr |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sudanese Association of Pediatricians
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4949837/ https://ncbi.nlm.nih.gov/pubmed/27493321 |
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