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Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant
Raine syndrome (RS) is a rare genetic disorder characterized by osteosclerotic bone dysplasia caused by a homozygous mutation, compound heterozygous mutation, or microdeletion in the FAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the FAM20C gene...
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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
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8216011/ https://ncbi.nlm.nih.gov/pubmed/34177433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513384 |
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