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LCCS1  -  lethal congenital contracture syndrome 1

Homo sapiens

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Disease relevance of LCCS1


High impact information on LCCS1


Biological context of LCCS1

  • The initial genome scan was performed with the DNA samples of only five affected individuals from two unrelated LCCS families [5].

Anatomical context of LCCS1


Analytical, diagnostic and therapeutic context of LCCS1


  1. Lethal congenital contracture syndrome: further delineation and genetic aspects. Vuopala, K., Herva, R. J. Med. Genet. (1994) [Pubmed]
  2. Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. Vuopala, K., Mäkelä-Bengs, P., Suomalainen, A., Herva, R., Leisti, J., Peltonen, L. J. Med. Genet. (1995) [Pubmed]
  3. Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease. Pakkasjärvi, N., Gentile, M., Saharinen, J., Honkanen, J., Herva, R., Peltonen, L., Kestilä, M. J. Neurobiol. (2005) [Pubmed]
  4. Pena-Shokier phenotype: case presentation and review. Kho, N., Czarnecki, L., Kerrigan, J.F., Coons, S. J. Child Neurol. (2002) [Pubmed]
  5. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Mäkelä-Bengs, P., Järvinen, N., Vuopala, K., Suomalainen, A., Ignatius, J., Sipilä, M., Herva, R., Palotie, A., Peltonen, L. Am. J. Hum. Genet. (1998) [Pubmed]
  6. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Pakkasjärvi, N., Ritvanen, A., Herva, R., Peltonen, L., Kestilä, M., Ignatius, J. Am. J. Med. Genet. A (2006) [Pubmed]
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