Monogenic disease

Articles

• distal spinal muscular atrophy type 5
  26 September 2003
• palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  31 March 2007
• lethal contractural syndrome type 3
  17 October 2007
• 46,XY gonadal dysgenesis
  23 August 2007
• hyperinsulinism-hyperammonemia syndrome
  24 April 2004
• short rib-polydactyly syndromes
  26 May 2004
• variegated mosaic aneuploidy syndrome
  25 November 2003
• ABCC8-associated hyperinsulinism
  25 January 2010
• X-linked visceral heterotaxy
  2 February 2005
• peroxisomal acyl-CoA-oxidase deficiency
  26 May 2009

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