Bardet-Biedl and Alström syndromes in Spain

Antzeko izenburuak

• Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome
  nork: Pereiro, Ines, et al.
  Argitaratua: (2011)
• http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl and other rare syndromes
  nork: Barrett, T, et al.
  Argitaratua: (2012)
• Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype
  nork: Catrinoiu, D, et al.
  Argitaratua: (2009)
• Differential effects on β-cell mass by disruption of Bardet–Biedl syndrome or Alstrom syndrome genes
  nork: Lodh, Sukanya, et al.
  Argitaratua: (2016)
• EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
  nork: Farmer, Amy, et al.
  Argitaratua: (2013)