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Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?
Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects,...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
1992
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015894/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1348094/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.3.184 |
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