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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...
Shranjeno v:
| izdano v: | Medicina (Kaunas) |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
MDPI
2020
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| Teme: | |
| Online dostop: | 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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