Medicine:Spondylo-meta-epiphyseal dysplasia

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Spondylo-meta-epiphyseal dysplasia
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.

Spondylo-meta-epiphyseal dysplasia (SMED) is a rare autosomal-recessive disease[1] that causes skeletal disorders.[2] SMED is thought to be caused by a mutation in the Discoidin Domain Receptor 2 (DDR2) gene.[3]

See also

References

  1. ↑ Borochowitz, Z; Langer Jr, LO; Gruber, HE; Lachman, R; Katznelson, MB; Rimoin, DL (1993). "Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology". American Journal of Medical Genetics 45 (3): 320–6. doi:10.1002/ajmg.1320450308. PMID 8434618. 
  2. ↑ Horn, D.; Rupprecht, E; Kunze, J; Spranger, J (2001). "Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism". Journal of Medical Genetics 38 (4): 262–5. doi:10.1136/jmg.38.4.262. PMID 11370632. 
  3. ↑ Bargal, Ruth; Cormier-Daire, Valerie; Ben-Neriah, Ziva; Le Merrer, Martine; Sosna, Jacob; Melki, Judith; Zangen, David H.; Smithson, Sarah F. et al. (2009). "Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications". The American Journal of Human Genetics 84 (1): 80–84. doi:10.1016/j.ajhg.2008.12.004. PMID 19110212. 

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Classification
External resources




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