Desbuquois syndrome
Definition:
References:
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[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]
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