[1] | Gritti A, Pisano S, Catone G, Iuliano R, Salvati T, Gritti P. Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature. Int J Psychiatry Med 2015; 50:347-360. | [2] | Shuqin L, Dingyin Z. Cardiovascular changes in 26 cases of Marfan's syndrome. Chinese Journal of Practical Internal Medicine 1992, 12:78-79. | [3] | Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, et al. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. BMC Musculoskelet Disord 2016; 17:79. | [4] | Aubart M, Gross MS, Hanna N, Zabot MT, Sznajder M, Detaint D. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Hum Mol Genet 2015; 24:2764-2770. | [5] | Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-339. | [6] | Wenjiao X, Xue G, Hong G. Screening for pathogenic genes in a family of Marfan syndrome. International Eye Science 2016, 16:948-951. | [7] | Ying B, Ning L, Quancheng K, Jun Y, Qinghua W, Zhenhua Z, et al. Analysis of FBN1 pathogenic gene mutations in a family of Marfan syndrome and prenatal diagnosis. National Medical Journal of China 2015, 95:145-146. | [8] | Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A 2009 ; 149:854-860. | [9] | Xiangqun J, Zhi X, Liqiong W. Clinical features of Marfan syndrome and analysis of FBN1 gene mutation. Journal of Clinical Pediatrics 2016, 34:775-778. | [10] | Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65:1007-1020. | [11] | Reinhardt DP, Ono RN, Sakai LY. Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 1997; 272:1231-1236. | [12] | Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 1996; 85:597-605. | [13] | Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet , 1988; 29:581-594. | [14] | De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62:417-426. | [15] | Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476-485. |
|