Atypical Presentation and a Novel Mutation in ALMS1: Implications for Clinical and Molecular Diagnostic Strategies for Alström Syndrome

Gelijkaardige items

• Alms1-disrupted mice recapitulate human Alström syndrome
  door: Collin, G.B., et al.
  Gepubliceerd in: (2005)
• Alström Syndrome: Mutation spectrum of ALMS1
  door: Marshall, Jan D., et al.
  Gepubliceerd in: (2015)
• The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
  door: Collin, Gayle B., et al.
  Gepubliceerd in: (2012)
• Novel Alu Retrotransposon Insertion Leading to Alström Syndrome
  door: Taşkesen, Mustafa, et al.
  Gepubliceerd in: (2011)
• Alström Syndrome is associated with short stature and reduced GH reserve
  door: Romano, S., et al.
  Gepubliceerd in: (2013)