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autosomal dominant hypercholesterolemia

MIM.143890

Sunday 3 April 2005

Etiology

- autosomal dominant familial hypercholesterolaemia (FH)

  • mutations in the low density lipoprotein (LDL)-receptor
  • mutations in apolipoprotein B genes
  • mutations in PCSK9, encoding a putative proprotein convertase (MIM.607786) in HCHOLA3 (MIM.603776)

Images

- tuberous xanthoma associated with familial hypercholesterolemia

Etiology

- dyslipidemia

  • familial hypercholesterolemia

See also

- xanthomas