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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped‐B‐like protein (NIPBL) and SMC1A....
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| Publicado no: | Clin Case Rep |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5538066/ https://ncbi.nlm.nih.gov/pubmed/28781842 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1010 |
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