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Identification of two CUL7 variants in two Chinese families with 3‐M syndrome by whole‐exome sequencing
BACKGROUND: 3‐M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely CUL7, OBSL1, and CCDC8. Only a f...
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| Publicado no: | J Clin Lab Anal |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7370744/ https://ncbi.nlm.nih.gov/pubmed/32141654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23265 |
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