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References

1. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia:mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. Review.
2. Chen TL, Posey KL, Hecht JT, Vertel BM. COMP mutations: domain-dependentrelationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem. 2008 Feb 15;103(3):778-87.
3. Developmental Biology (sixth edition, 2000): Osteogenesis: The Development of Bones
4. Gagarina V, Carlberg AL, Pereira-Mouries L, Hall DJ. Cartilage oligomericmatrix protein protects cells against death by elevating members of the IAPfamily of survival proteins. J Biol Chem. 2008 Jan 4;283(1):648-59.
5. Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ,Cole WG. Chondrocyte cell death and intracellular distribution of COMP and typeIX collagen in the pseudoachondroplasia growth plate. J Orthop Res. 2004Jul;22(4):759-67.
6. Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M,Briggs MD, Cole WG, Ala-Kokko L. Mutations in the known genes are not the majorcause of MED; distinctive phenotypic entities among patients with no identifiedmutations. Eur J Hum Genet. 2005 Mar;13(3):292-301. Erratum in: Eur J Hum Genet. 2005 Oct;13(10):1166. Czarny-Ratacjzak, Malwina [corrected to Czarny-Ratajczak,Malwina].
7. Posey KL, Yang Y, Veerisetty AC, Sharan SK, Hecht JT. Model systems forstudying skeletal dysplasias caused by TSP-5/COMP mutations. Cell Mol Life Sci.2008 Mar;65(5):687-99. doi: 10.1007/s00018-007-7485-0. Review.
8. Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J,Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L,Superti-Furga A, Briggs MD. Preselection of cases through expert clinical andradiological review significantly increases mutation detection rate in multipleepiphyseal dysplasia. Eur J Hum Genet. 2007 Feb;15(2):150-4.