Monogenic disease

Articles

• hereditary hypofibrinogenemia
  6 August 2007
• hidrotic ectodermal dysplasias
  18 December 2007
• cerebrooculofacioskeletal syndrome type 4
  24 February 2008
• Tourette syndrome
  3 September 2004
• encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria
  10 March 2010
• partial deletion of 21q22.2-q22.3
  21 January 2005
• immunodeficiency with hyper-IgM type 4
  26 January 2011
• otopalatodigital syndrome type 2
  15 May 2008
• alpha-mannosidosis
  29 July 2008
• Fanconi disease
  29 September 2003

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