Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.
Fereshteh JamshidiEbrahim ShokouhianMarzieh MohseniKimia KahriziHossein NajmabadiMojgan BabanejadPublished in: Molecular genetics & genomic medicine (2023)
Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype-genotype relation of LAMM syndrome.