Differential Diagnosis between Pendred and Pseudo-Pendred Syndromes: Clinical, Radiologic, and Molecular Studies

This publication has 38 references indexed in Scilit:

• Molecular Analysis of the Pendred's Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred's Syndrome
  Journal of Clinical Endocrinology & Metabolism, 2000
• A novel mutation in the pendrin gene associated with Pendred's syndrome
  Clinical Endocrinology, 2000
• Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome
  Human Mutation, 1999
• Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendred's Syndrome Associated with a Novel Mutation in the PDS Gene
  Journal of Clinical Endocrinology & Metabolism, 1999
• Two Frequent Missense Mutations in Pendred Syndrome
  Human Molecular Genetics, 1998
• Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)
  Human Molecular Genetics, 1998
• Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome
  JAMA Otolaryngology–Head & Neck Surgery, 1998
• Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
  Nature Genetics, 1997
• Pendred syndrome--100 years of underascertainment?
  QJM: An International Journal of Medicine, 1997
• DEAF-MUTISM AND GOITRE.
  The Lancet, 1896