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Page 1
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. Palz M, et al. Among authors: kaufmann uc. Am J Med Genet. 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10756346
The acrocallosal syndrome in sisters.
Schinzel A, Kaufmann U. Schinzel A, et al. Clin Genet. 1986 Nov;30(5):399-405. doi: 10.1111/j.1399-0004.1986.tb01897.x. Clin Genet. 1986. PMID: 3802558