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Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
New mesomelic dysplasia with absent fibulae and triangular tibiae.
Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484
"Baby rattle" pelvis dysplasia.
Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL, Wilcox WR. Cormier-Daire V, et al. Am J Med Genet. 2001 Apr 15;100(1):37-42. Am J Med Genet. 2001. PMID: 11337746
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.
474 results