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The human phenotype ontology.
Robinson PN, Mundlos S. Robinson PN, et al. Clin Genet. 2010 Jun;77(6):525-34. doi: 10.1111/j.1399-0004.2010.01436.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20412080 Review.
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: robinson pn. 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
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Tiecke F, et al. Among authors: robinson pn. Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. Eur J Hum Genet. 2001. PMID: 11175294
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