LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss |
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| Affiliation: | 1. Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James''s, University of Leeds, United Kingdom;2. School of Biomedical Sciences, University of Leeds, United Kingdom;3. National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman;4. Genetic & Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman;5. Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman;6. Department of Zoology, Faculty of Science, Benha University, Benha, Egypt;7. Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman;8. Department of Ear, Nose & Throat, Al Nahdha Hospital, Ministry of Health, Muscat, Oman;1. Departments of Otolaryngology and Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA;2. Department of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA;3. Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA;4. Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH 43210, USA;1. Howard Hughes Medical Institute and Laboratory of Sensory Neuroscience, The Rockefeller University, New York, NY, USA;1. Department of Statistics, University of California, Davis, United States;2. Federal Reserve Bank of San Francisco, United States;3. Department of Economics, University of California, Davis, United States;4. International Institute for Human-Animal Networks, Department of Population Health & Reproduction, School of Veterinary Medicine, California National Primate Research Center, University of California, Davis, United States |
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| Keywords: | Deafness Homozygosity mapping Exome sequencing LHFPL5 DNA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" deoxyribonucleic acid IQ" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" intelligent quotient LHFPL5" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" lipoma HMGIC fusion partner-like 5 gene MRI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" magnetic resonance imaging NHS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" Nance-Horan Syndrome actin remodeling regulator SNP" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" single nucleotide polymorphism |
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