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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Am J Hum Genet 65:974-83 (1999)
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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 62:816-23 (1998)
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Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Am J Med Genet A 164A:2601-6 (2014)
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