Associated Papers
A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.
Zhang K et al.
Biochemical Genetics, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 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
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
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
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
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.
Frijns JHM et al.
Therapeutic Advances in Rare Disease, 0
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