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Type II collagenopathies: are there additional family members?
Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A. Freisinger P, et al. Am J Med Genet. 1996 May 3;63(1):137-43. doi: 10.1002/(SICI)1096-8628(19960503)63:1<137::AID-AJMG24>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8723099
An atypical form of mucolipidosis III.
Freisinger P, Padovani JC, Maroteaux P. Freisinger P, et al. J Med Genet. 1992 Nov;29(11):834-6. doi: 10.1136/jmg.29.11.834. J Med Genet. 1992. PMID: 1453439 Free PMC article.
Dominant carpotarsal osteochondromatosis.
Maroteaux P, Le Merrer M, Bensahel H, Freisinger P. Maroteaux P, et al. Among authors: freisinger p. J Med Genet. 1993 Aug;30(8):704-6. doi: 10.1136/jmg.30.8.704. J Med Genet. 1993. PMID: 8411062 Free PMC article.
Dysspondylochondromatosis.
Freisinger P, Finidori G, Maroteaux P. Freisinger P, et al. Am J Med Genet. 1993 Feb 15;45(4):460-4. doi: 10.1002/ajmg.1320450413. Am J Med Genet. 1993. PMID: 8465851
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Elliott AM, et al. Among authors: freisinger p. Am J Med Genet. 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. Am J Med Genet. 2002. PMID: 11977163
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