Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix prot...

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Bibliografski detalji
Glavni autori: Jackson, Gail C, Mittaz-Crettol, Laureane, Taylor, Jacqueline A, Mortier, Geert R, Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Offiah, Amaka, Wright, Michael J, Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C, Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D
Format: Artigo
Jezik:Inglês
Izdano: Wiley Subscription Services, Inc., A Wiley Company 2012
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272220/
https://ncbi.nlm.nih.gov/pubmed/21922596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21611
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