Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

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

Life Sciences, Genetics, Molecular Genetics +4

The large vestibular aqueduct syndrome

Robert K. Jackler, Antonio De la Cruz · The Laryngoscope · 1989 · 344 citations

Medicine, Audiology, Otolaryngology +17

Radiological malformations of the ear in pendred syndrome

Peter Phelps, Rebecca A. Coffey, Richard C. Trembath et al. · Clinical Radiology · 1998 · 257 citations

Medicine, Otolaryngology, Radiology +14

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Beth Coyle, William Reardon, Jo-Anne Herbrick et al. · Human Molecular Genetics · 1998 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Phenotypic manifestations of branchiootorenal syndrome

Achih Chen, Mary C. Francis, Li Ni et al. · American Journal of Medical Genetics · 1995 · 207 citations

Medicine, Audiology, Otolaryngology +16