Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population-Reference-Cited by-同舟云学术

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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Published:2014-07-02 Issue:3 Volume:23 Page:342-346
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gonzaga-Jauregui Claudia,Gamble Candace N,Yuan Bo,Penney Samantha,Jhangiani Shalini,Muzny Donna M,Gibbs Richard A,Lupski James R,Hecht Jacqueline T

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014107.pdf

Reference20 articles.

1. Steel HH, Piston RW, Clancy M, Betz RR : A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children. J Bone Joint Surg Am 1993; 75: 259–264.

2. Flynn JM, Ramirez N, Betz R et al: Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. J Pediatr Orthop 2010; 30: 282–288.

3. Lupski JR, Gonzaga-Jauregui C, Yang Y et al: Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 2013; 5: 57.

4. Bainbridge MN, Wiszniewski W, Murdock DR et al: Whole-genome sequencing for optimized patient management. Sci Transl Med 2011; 3: 87re3.

5. Shen Y, Wan Z, Coarfa C et al: A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res 2010; 20: 273–280.

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