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A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy
We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who presented with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation within the endoneurium and with a decreased density of myelinated fibers. We found, in the patient...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The American Society of Human Genetics
2000
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288570/ https://ncbi.nlm.nih.gov/pubmed/11017805 |
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