Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
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DOI: 10.1016/j.ejmg.2017.02.004
Abstract: Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations… read more here.
Keywords: jalili syndrome; splice site; cnnm4 gene; family ... See more keywords