Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
Sandrine Marlin(Hôpital Necker-Enfants Malades), Françoise Denoyelle(Hôpital Necker-Enfants Malades), Isabelle Rouillon(Hôpital Armand-Trousseau), Natalie Loundon(Hôpital Necker-Enfants Malades), Laurence Jonard(Inserm), Christine Petit(Inserm), Delphine Feldmann(Hôpital Armand-Trousseau), Rémy Couderc(Sorbonne Université), Yann Nguyen(Sorbonne Université), E.N. Garabédian(Hôpital Necker-Enfants Malades), Crystel Bonnet(Centre National de la Recherche Scientifique)
Cited by 88
Related Papers
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
|Cell|1999|868
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
|Nature Genetics|2001|538
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
|Proceedings of the National Academy of Sciences|2004|420
Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome
|Journal of the American Society of Nephrology|2000|292