Concepedia

Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features

Stefano Berrettini, Francesca Forlì, Fausto Bogazzi, Emanuele Neri, Luca Salvatori, Augusto Pietro Casani, Stefano Sellari Franceschini

American Journal of Otolaryngology · 2005 · 124 citations · 66 references

DOI

Concepts

References

66

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

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Congenital malformations of the inner ear: A classification based on embryogenesis

Robert K. Jackler, William M. Luxfor, William F. House · The Laryngoscope · 2009 · 770 citations

, , +16

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson et al. · Nature Genetics · 1999 · 694 citations

, , +13

STUDIES IN HUMAN VESTIBULAR FUNCTION

Gerald Fitzgerald, C. S. Hallpike · Brain · 1942 · 570 citations

, , +17

The Large Vestibular Aqueduct Syndrome

Galdino E. Valvassori, Jack D. Clemis · The Laryngoscope · 1978 · 564 citations

, , +17