Associated Papers
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J et al.
Clinical Genetics, 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
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2018
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
Bensaïd M et al.
European Journal of Medical Genetics, 0
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