Associated Papers
A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.
Zhang K et al.
Biochemical Genetics, 2025
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
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
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.
Li DY et al.
Frontiers in Oncology, 2021
34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information
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
Role of FGFs/FGFRs in skeletal development and bone regeneration.
Du X et al.
Journal of Cellular Physiology, 2012
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
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
Select a paper to view details