Associated Papers
LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.
Perret AC et al.
Animal Genetics, 2025
Multiple plasma membrane reporters discern LHFPL5 region that blocks trafficking to the plasma membrane.
Soler DC et al.
Scientific Reports, 2023
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
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI et al.
Journal of Medical Genetics, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E et al.
Human Mutation, 2006
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
Longo-Guess CM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
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