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Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesi...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer-Verlag
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3548104/ https://ncbi.nlm.nih.gov/pubmed/23254390 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-012-0126-9 |
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