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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Vydáno v:J Clin Lab Anal
Hlavní autoři: Hu, Li, Wang, Xike, Jin, Tingting, Han, Yuanyuan, Liu, Juan, Jiang, Minmin, Yan, Shujuan, Fu, Xiaoling, An, Bangquan, Huang, Shengwen
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Research Articles
On-line přístup: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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