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Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2...
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| 出版年: | J Pediatr Genet |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2019
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688880/ https://ncbi.nlm.nih.gov/pubmed/31406622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1683382 |
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