Identification of two CUL7 variants in two Chinese families with 3‐M syndrome by whole‐exome sequencing
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DOI: 10.1002/jcla.23265
Abstract: 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,… read more here.
Keywords: two chinese; chinese families; cul7 variants; variants two ... See more keywords