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De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutat...
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| Publicado no: | Medicina (Kaunas) |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7073647/ https://ncbi.nlm.nih.gov/pubmed/32074972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina56020076 |
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