Valve Replacement for Progressive Mitral Valve Stenosis Associated with Geleophysic Dysplasia
Author:
Affiliation:
1. Sakakibara Heart Institute, Pediatric Cardiovascular Surgery
Publisher
The Japanese Society for Cardiovascular Surgery
Subject
Psychiatry and Mental health
Link
https://www.jstage.jst.go.jp/article/jjcvs/51/4/51_204/_pdf
Reference9 articles.
1. 1) Goff CL, Cormier-Daire V. Genetic and molecular aspects of acromelic dysplasia. Pediatr Endocrinol Rev 2009; 6: 418-23.
2. 2) Scott A, Yeung S, Dickinson DF et al. Natural history of cardiac involvement in geleophysic dysplasia. Am J Med Genet A 2005; 132A: 320-3.
3. 3) Marzin P, Thierry B, Dancasius A et al. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genet Med 2021; 23: 331-40.
4. 4) Tao Y, Wei Q, Chen X et al. Geleophysic dysplasia caused by a mutation in FBN1: a case report. World J Clin Cases 2021; 9: 6964-8.
5. 5) Goff CL, Moice-Picard F, Nathalie D et al. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation. Nat Genet 2008; 40: 1119-23.
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