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Lipoid proteinosis (Urbach-Wiethe syndrome).
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
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| Main Authors: | , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1979
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1043596/ https://ncbi.nlm.nih.gov/pubmed/508682 |
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