Article

Jalili Syndrome: A new pathogenic mutation of CNNM4 gene

2022-06-03

Abstract excerpt

Jalili syndrome (JS) is a rare autosomal recessive with two cardinal symptoms including cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). This disease caused by different mutations on the metal transporter gene CNNM4 located on 2q11. This report described an Iranian family with clinical features of JS and phenotypic variability in terms of ocular and dental findings. The parents were healthy and consangui...

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Literature Corpus work: 125792db-29ce-5835-b585-125127d4d406
DOI: 10.21203/rs.3.rs-1699423/v1

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