Associated Papers
A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.
Zhang K et al.
Biochemical Genetics, 2025
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region
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.
Jamshidi F et al.
Molecular Genetics & Genomic Medicine, 2023
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
Sensi A et al.
American Journal of Medical Genetics. Part A, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.
Riazuddin S et al.
Bmc Medical Genetics, 2011
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.
Ramsebner R et al.
The Laryngoscope, 2010
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 2009
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Tekin M et al.
Clinical Genetics, 2008
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