Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
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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