Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation

Ítems similars

• A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
  per: Heathcote, K., et al.
  Publicat: (2000)
• Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
  per: Ramer, J C, et al.
  Publicat: (1994)
• Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
  per: RamShankar, M, et al.
  Publicat: (2003)
• Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss
  per: Kenna, Margaret A., et al.
  Publicat: (2010)
• Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
  per: Sharland, M, et al.
  Publicat: (1992)