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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...
保存先:
| 出版年: | Sudan J Paediatr |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sudanese Association of Pediatricians
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4949837/ https://ncbi.nlm.nih.gov/pubmed/27493321 |
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