Medical condition
Spondylo-meta-epiphyseal dysplasia 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
^ 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 .
^ 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 . PMC 1734840 . PMID 11370632 .
^ Bargal, Ruth; Cormier-Daire, Valerie; Ben-Neriah, Ziva; Le Merrer, Martine; Sosna, Jacob; Melki, Judith; Zangen, David H.; Smithson, Sarah F.; Borochowitz, Zvi; Belostotsky, Ruth; Raas-Rothschild, Annick (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 . PMC 2668047 . PMID 19110212 .
External links
Classification External resources