Monogenic disease

Articles

• mucolipidosis type IIIa
  17 February 2006
• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008
• x-linked ectodermal dysplasia
  12 October 2007
• autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
  26 January 2006
• carnitine palmitoyltransferase deficiency type 2
  18 March 2005
• Cockayne syndrome
  26 May 2004
• hereditary leiomyomatosis and renal cell cancer syndrome
  24 September 2003
• Huntington disease
  22 September 2003
• late infantile-onset neuronal ceroid lipofuscinosis type 7
  31 October 2007
• HANAC syndrome
  5 January 2008

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