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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 Babanejad
Published 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.
Keyphrases
  • case report
  • copy number
  • genome wide
  • gene expression
  • transcription factor
  • genome wide analysis