Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia-Reference-Cited by-同舟云学术

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Published:2019-02-10 Issue:4 Volume:179 Page:534-541
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dasa Vinod¹,Eastwood James R.B.²,Podgorski Michal³,Park Heewon⁴,Blackstock Christopher²,Antoshchenko Tetyana⁴,Rogala Piotr⁵⁶,Bieganski Tadeusz³,Jazwinski S. Michal²,Czarny-Ratajczak Malwina²^ORCID

Affiliation:

1. Department of Orthopaedic Surgery; Louisiana State University Health Sciences Center; New Orleans Louisiana

2. Tulane Center for Aging, Department of Medicine; Tulane University School of Medicine; New Orleans Louisiana

3. Department of Diagnostic Imaging; Polish Mother's Memorial Hospital Research Institute; Lodz Poland

4. Department of Biochemistry and Molecular Biology; Tulane University School of Medicine; New Orleans Louisiana

5. Department of Spine Surgery, Oncological Orthopedics and Traumatology; W. Dega University Hospital, Poznan University of Medical Sciences; Poznan Poland

6. Department of Physiotherapy; H. Cegielski State College; Gniezno Poland

Funder

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61049/fullpdf

Reference27 articles.

1. Legg-Calve-Perthes disease in two generations of male family members: A case report;Al-Omran;Journal of Orthopaedic Surgery (Hong Kong),2013

2. Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease;Andersen;Acta Radiologica,1988