Schmid metaphyseal chondrodysplasia
|Schmid metaphyseal chondrodysplasia|
|This condition is inherited in ab autosomal dominant manner|
Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses.
It is named for the German researcher F. Schmid, who characterized it in 1949.
- Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG (September 2005). "Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients". Am. J. Med. Genet. A. 137A (3): 241–8. doi:10.1002/ajmg.a.30855. PMID 16088909.
- Ho MS, Tsang KY, Lo RL, et al. (May 2007). "COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid". Hum. Mol. Genet. 16 (10): 1201–15. doi:10.1093/hmg/ddm067. PMID 17403716.
- Tan JT, Kremer F, Freddi S, et al. (March 2008). "Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia". Am. J. Hum. Genet. 82 (3): 786–93. doi:10.1016/j.ajhg.2008.01.006. PMC 2427218. PMID 18304492.
- Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
- Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
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