Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

Lignende værker

• C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment
  af: Medica, Igor, et al.
  Udgivet: (2005)
• A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
  af: Van Laer, L, et al.
  Udgivet: (2001)
• Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss
  af: Migliosi, V, et al.
  Udgivet: (2002)
• Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
  af: West, P, et al.
  Udgivet: (2003)
• Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing
  af: Yip, Moh-Ying
  Udgivet: (2014)