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American Journal of Human Genetics|September 16, 1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesS Annunen, J Körkkö, M Czarny, et al.
American Journal of Human Genetics|January 3, 2001
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studyC Gaspar, I Lopes-Cendes, S Hayes, et al.
American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.
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