Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1860
Abstract: Jalili syndrome (JS) is a rare autosomal‐recessive inherited disorder characterized by cone‐rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity. read more here.
Keywords: homozygous nonsynonymous; nonsynonymous variant; jalili syndrome; jalili ... See more keywords
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.902
Abstract: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and… read more here.
Keywords: pathogenic missense; jalili syndrome; novel pathogenic; variant cnnm4 ... See more keywords
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
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