Costello syndrome: three sporadic cases |
Kim, Ji Youn
(Department of Pediatrics, St Carollo Hospital)
Kim, Mi Jeong (Department of Pediatrics, School of Medicine, Chonnam National University) Song, Eun Song (Department of Pediatrics, School of Medicine, Chonnam National University) Cho, Young Kuk (Department of Pediatrics, School of Medicine, Chonnam National University) Choi, Young Youn (Department of Pediatrics, School of Medicine, Chonnam National University) Ma, Jae Sook (Department of Pediatrics, School of Medicine, Chonnam National University) |
1 | Davies SJ, Hughes HE. Cutis laxa: a feature of Costello syndrome. J Med Genet 1994;31:85 |
2 | Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, et al. Myocardial storage of chondroitin sulfatecontaining moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. Am J Med Genet A 2005;133: 1-12 |
3 | Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A 2006;140:8-16 |
4 | Mori M, Yamagata T, Mori Y, Nokubi M, Saito K, Fukushima Y, et al. Elastic fiber degeneration in Costello syndrome. Am J Med Genet 1996;61:304-9 DOI ScienceOn |
5 | Costello JM. A new syndrome: mental subnormality and nasal papillomata. Austr Paediatr J 1977;13:114-8 |
6 | Costello JM. A new syndrome. NZ Med J 1971;74:397 |
7 | Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005;37:1038-40 DOI ScienceOn |
8 | Hennekam RC. Costello syndrome: an overview. Am J Med Genet C Semin Med Genet 2003;117:42-8 |
9 | Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, et al. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. Am J Med Genet A 2006;140:1-7 |
10 | Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H. New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. Am J Med Genet 1992;43:678-85 DOI ScienceOn |
11 | Gripp KW. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet 2005;137:7-27 |
12 | van Eeghen AM, van Gelderen I, Hennekam RC. Costello syndrome: report and review. Am J Med Genet 1999;82: 187-93 DOI ScienceOn |
13 | Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, et al. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002;111:115-29 DOI ScienceOn |
14 | Fryns JP, Vogels A, Haegeman J, Eggermont E, van den Berghe H. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. Genet Couns 1994;5:337-43 |