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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Detalles Bibliográficos
Autores principales: Hu, Li, Wang, Xike, Jin, Tingting, Han, Yuanyuan, Liu, Juan, Jiang, Minmin, Yan, Shujuan, Fu, Xiaoling, An, Bangquan, Huang, Shengwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7370744/
https://www.ncbi.nlm.nih.gov/pubmed/32141654
http://dx.doi.org/10.1002/jcla.23265

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