Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1
Author:
Affiliation:
1. Department of Medical Genetics; Kasturba Medical College, Manipal University; Manipal India
2. Department of Orthopedics; Kasturba Medical College, Manipal University; Manipal India
Funder
Department of Science and Technology, Government of Kerala
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13006/fullpdf
Reference7 articles.
1. A syndrome of dislocated hips and radial heads, carpal coalition and short stature in Puerto Rican children;Steel;J Bone Joint Surg Am,1993
2. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features;Flynn;J Pediatr Orthop,2010
3. Collagen XXVII organises the pericellular matrix in the growth plate;Plumb;PLoS One,2011
4. Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1;Pace;Matrix Biol,2003
5. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population;Gonzaga-Jauregui;Eur J Hum Genet,2015
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