Associated Papers
Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.
Naddafnia H et al.
Iranian Journal of Public Health, 2024
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
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
Al Yassin A et al.
Genes, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Tekin M et al.
Clinical Genetics, 2008
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
Tekin M et al.
American Journal of Human Genetics, 2007
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