Group of diseases

Articles

• polycythemias
  23 September 2003

  polycythemic disorders

• sensorineural hearing loss
  25 September 2003

  sensorineural deafness

• dyslipidemias
  3 July 2003
• lymphatic dysplasia
  8 July 2003

  lymphangiodysplasias, congenital lymphatic dysplasias

• overgrowth syndromes
  7 October 2003

  childhood overgrowth

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• familial cholestatic diseases
  30 May 2003

  familial cholestatic disorders, familial cholestatic syndromes

• primary ciliary dyskinesia
  23 November 2003

  PCD, immotile cilia syndrome
  Digital case (Digital slides)
  HPC:366 : Bronchiectasis in ciliary dyskinesia
  Definition: Autosomal recessive chronic pulmonary disease.
  Synopsis
  bronchiectasis
  immotile cilia
  ciliary dyskinesia
  chronic rhinitis
  sinusitis
  nasal polyps
  abnormal dynein arms by electron microscopy
  Etiology: 5 loci have been identified. DNAI1 CILD1 MIM.242650 9p21-p13 unknown CILD2 MIM.606763 19q13.3-qter DNAH5 CILD3 MIM.608644 5p15-p14 unknown CILD4 (...)

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