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Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-of-function mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literat...
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| 出版年: | Mol Syndromol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4521069/ https://ncbi.nlm.nih.gov/pubmed/26279654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000407418 |
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