Marshall syndrome associated with a splicing defect at the COL11A1 locus

Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet. 1998 Apr;62(4):816-23.