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A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud
PURPOSE: Preaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I–IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types. However, the genes responsible for PPD I and th...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group US
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6944640/ https://ncbi.nlm.nih.gov/pubmed/31395945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0626-7 |
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