Spondylocostal dysostosis

Definition:

Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.

References:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.