Autosomal dominant brachyolmia: transient metaphyseal striations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Radiology, Nuclear Medicine and imaging
Link
http://link.springer.com/article/10.1007/s00256-017-2684-8/fulltext.html
Reference8 articles.
1. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J med Genet Part a. 2014;164:1635–41. doi: 10.1002/ajmg.a.36502 .
2. Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Autosomal recessive brachyolmia: early radiological findings. Skelet Radiol. 2016;45(11):1557–60. doi: 10.1007/s00256-016-2458-8 .
3. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012;42:15–23. doi: 10.1007/s00247-011-2229-6 .
4. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999–1003. doi: 10.1038/ng.166 .
5. Shohat M, Lachman R, Gruber HE, Rimoin DL. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J med. 1989;33:209–19.
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