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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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| Publicat a: | Medicina (Kaunas) |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2020
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| Matèries: | |
| Accés en línia: | 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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