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Gene symbol: COL11A1. Disease: Marshall syndrome.
Meisler MH, Griffith AJ, Warman M, Tiller G, Sprunger LK. Meisler MH, et al. Among authors: warman m. Hum Genet. 1998 Apr;102(4):498. doi: 10.1007/s004390050731. Hum Genet. 1998. PMID: 9600252 Free article. No abstract available.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: warman ml. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
Of mice and men: heritable skeletal disorders.
Jacenko O, Olsen BR, Warman ML. Jacenko O, et al. Among authors: warman ml. Am J Hum Genet. 1994 Feb;54(2):163-8. Am J Hum Genet. 1994. PMID: 8304335 Free PMC article. No abstract available.
249 results