Whole-exome sequencing: discovering genetic causes of orthopaedic disorders

J Bone Joint Surg Am. 2013 Dec 4;95(23):e1851-8. doi: 10.2106/JBJS.L.01620.

Authors

Nandina Paria¹, Lawson A Copley, John A Herring, Harry K W Kim, Benjamin S Richards, Daniel J Sucato, Carol A Wise, Jonathan J Rios

Affiliation

¹ Sarah M. and Charles E. Seay Center for Musculoskeletal Research (N.P., H.K.W.K., C.A.W., and J.J.R.), Department of Orthopaedics (L.A.C., J.A.H, B.S.R., and D.J.S.), Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219. E-mail address for J.J. Rios: Jonathan.Rios@tsrh.org.

PMID: 24306708
DOI: 10.2106/JBJS.L.01620

No abstract available

Publication types

Review

MeSH terms

Exome / genetics*
Genetic Predisposition to Disease / genetics
Humans
Musculoskeletal Diseases / genetics*
Musculoskeletal Diseases / therapy
Mutation / genetics
Pedigree
Rare Diseases / genetics
Sequence Analysis, DNA / methods