polycythemic disorders
Home > Keywords > Disease > Group of diseases
Group of diseases
Articles
-
polycythemias
23 September 2003 -
sensorineural hearing loss
25 September 2003sensorineural deafness
-
dyslipidemias
3 July 2003 -
lymphatic dysplasia
8 July 2003lymphangiodysplasias, congenital lymphatic dysplasias
-
overgrowth syndromes
7 October 2003childhood overgrowth
-
mitochondrial protein synthesis disorders
20 November 2003References
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 2003familial cholestatic disorders, familial cholestatic syndromes
-
primary ciliary dyskinesia
23 November 2003PCD, 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 (...)
0 | ... | 90 | 100 | 110 | 120 | 130 | 140 | 150 | 160 | 170 | 180