| bibliographicCitation |
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, 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. Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes. The American Journal of Human Genetics. 1999 Oct;65(4):974–83. doi: 10.1086/302585. |