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Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
OBJECTIVE: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. METHODS: We extracted genomic DNA from five members of a four-generation Chinese SEDT...
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| Veröffentlicht in: | Int J Endocrinol |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Hindawi
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6311833/ https://ncbi.nlm.nih.gov/pubmed/30647738 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8263136 |
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