Desbuquois syndrome

Definition:

Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified.

References:

[1]. Catherine Bui, et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014 Mar 6;94(3):405-14. [Content Brief]

[2]. Céline Huber, et al. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet. 2009 Nov;85(5):706-10. [Content Brief]

[3]. M Shohat, et al. Desbuquois syndrome: clinical, radiographic, and morphologic characterization. Am J Med Genet. 1994 Aug 1;52(1):9-18. [Content Brief]

[4]. Maha Faden, et al. Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet A. 2010 May;152A(5):1157-60. [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.