Identification of two CUL7 variants in two Chinese families with 3‐M syndrome by whole‐exome sequencing

摘要

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 , , and . Only a few 3‐M syndrome patients have been reported in Chinese population.