Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix proteinSUSIC, S; MCGRORY, J; AHIER, J et al.Clinical genetics. 1997, Vol 51, Num 4, pp 219-224, issn 0009-9163Article

The identification of exons from the MED/PSACH region of human chromosome 19QUAN-YI LI; LENNON, G. G; BROOK, J. D et al.Genomics (San Diego, Calif.). 1996, Vol 32, Num 2, pp 218-224, issn 0888-7543Article

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneDELOT, E; KING, L. M; BRIGGS, M. D et al.Human molecular genetics (Print). 1999, Vol 8, Num 1, pp 123-128, issn 0964-6906Article

Mosaicism in pseudoachondroplasiaFERGUSON, H. L; DEERE, M; EVANS, R et al.American journal of medical genetics. 1997, Vol 70, Num 3, pp 287-291, issn 0148-7299Article

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaHECHT, J. T; NELSON, L. D; LAWLER, J et al.Nature genetics. 1995, Vol 10, Num 3, pp 325-329, issn 1061-4036Article

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneBRIGGS, M. D; HOFFMAN, S. M. G; CEKLENIAK, J. A et al.Nature genetics. 1995, Vol 10, Num 3, pp 330-336, issn 1061-4036Article

Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasiaNAKAYAMA, Hiroaki; ENDO, Yuichi; AOTA, Shigeo et al.Oncology reports. 2003, Vol 10, Num 4, pp 871-873, issn 1021-335X, 3 p.Article

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenitaUNGER, Sheila; KORKKO, Jarmo; KRAKOW, Deborah et al.American journal of medical genetics. 2001, Vol 104, Num 2, pp 140-146, issn 0148-7299Article