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American Journal of Diseases of Children (1960)|July 1, 1989
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancyM J Stephan, E L Stevens, R J Wenstrup, et al.Journal of Medical Genetics|August 9, 2005
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin geneZ Szabo, M W Crepeau, A L Mitchell, et al.Journal of Medical Genetics|April 16, 1999
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisationJ K Frizzley, M J Stephan, A N Lamb, et al.Fetal Diagnosis and Therapy|February 15, 2001
Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a livebornR Miller, M J Stephan, R F Hume, et al.American Journal of Medical Genetics|June 1, 1987
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 casesJ F Reynolds, A Daniel, T E Kelly, et al.American Journal of Human Genetics|June 13, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang, W Guo, R L Wagner, et al.Pageof 9