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Severe perinatal Marfan syndrome.
Gross DM, Robinson LK, Smith LT, Glass N, Rosenberg H, Duvic M. Gross DM, et al. Among authors: smith lt. Pediatrics. 1989 Jul;84(1):83-9. Pediatrics. 1989. PMID: 2740180
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Byers PH, et al. Among authors: smith lt. Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9295084
Prevalence of hypopigmented macules in a healthy population.
Vanderhooft SL, Francis JS, Pagon RA, Smith LT, Sybert VP. Vanderhooft SL, et al. Among authors: smith lt. J Pediatr. 1996 Sep;129(3):355-61. doi: 10.1016/s0022-3476(96)70066-5. J Pediatr. 1996. PMID: 8804323
Marfan syndrome: abnormal alpha 2 chain in type I collagen.
Byers PH, Siegel RC, Peterson KE, Rowe DW, Holbrook KA, Smith LT, Chang YH, Fu JC. Byers PH, et al. Among authors: smith lt. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745. Proc Natl Acad Sci U S A. 1981. PMID: 6950413 Free PMC article.
190 results