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Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report
INTRODUCTION: Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted g...
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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: |
BioMed Central
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4158768/ https://ncbi.nlm.nih.gov/pubmed/25186005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-291 |
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