A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

Antzeko izenburuak

• Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
  nork: Kelley, P M, et al.
  Argitaratua: (1998)
• Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.
  nork: Moynihan, L M, et al.
  Argitaratua: (1998)
• A genotype-phenotype correlation for GJB2 (connexin 26) deafness
  nork: Cryns, K, et al.
  Argitaratua: (2004)
• Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
  nork: Santos, RLP, et al.
  Argitaratua: (2005)
• A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma
  nork: Youssefian, Leila, et al.
  Argitaratua: (2018)