PMC Links for OMIM (Select 604841) - PMC

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Items: 3

Select item 17358711.

Clinical features of type 2 Stickler syndrome

A Poulson, J Hooymans, A Richards, P Bearcroft, R Murthy, D Baguley, J Scott, M Snead

J Med Genet. 2004 Aug; 41(8): e107. doi: 10.1136/jmg.2004.018382

PMCID:: PMC1735871

Summary PDF–177K

Select item 13770292.

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

A J Griffith, L K Sprunger, D A Sirko-Osadsa, G E Tiller, M H Meisler, M L Warman

Am J Hum Genet. 1998 Apr; 62(4): 816–823. doi: 10.1086/301789

PMCID:: PMC1377029

Summary PDF–1.0M

Select item 12882683.

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny, Matthew L. Warman, Han G. Brunner, Helena Kääriäinen, John B. Mulliken, Lisbeth Tranebjærg, David G. Brooks, Gerald F. Cox, Johan R. Cruysberg, Mary A. Curtis, Sandra L. H. Davenport, Christopher A. Friedrich, Ilkka Kaitila, Maciej Robert Krawczynski, Anna Latos-Bielenska, Shitzuo Mukai, Björn R. Olsen, Nancy Shinno, Mirja Somer, Miikka Vikkula, Joel Zlotogora, Darwin J. Prockop, Leena Ala-Kokko

Am J Hum Genet. 1999 Oct; 65(4): 974–983. Published online 1999 Sep 14. doi: 10.1086/302585