Spondylocostal dysostosis
Definition:
References:
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[1]. Aideen M McInerney-Leo, et al. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet. 2015 Mar 1;24(5):1234-42. [Content Brief]
[2]. Duncan B Sparrow, et al. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. [Content Brief]
[3]. Duncan B Sparrow, et al. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet. 2010 Jun;18(6):674-9. [Content Brief]
[4]. Emily T Shifley, et al. The vertebrate segmentation clock and its role in skeletal birth defects. Birth Defects Res C Embryo Today. 2007 Jun;81(2):121-33. [Content Brief]
[5]. Stefano Zanotti, et al. Notch and the skeleton. Mol Cell Biol. 2010 Feb;30(4):886-96. [Content Brief]
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