Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Orthopedics and Sports Medicine
Link
http://link.springer.com/content/pdf/10.1007/s43390-020-00030-7.pdf
Reference19 articles.
1. Faivre L, Le Merrer M, Zerres K et al (2004) Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet A 128:29–32
2. Faivre L, Cormier-Daire V, Eliott AM et al (2004) Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: radiographic manifestations. Am J Med Genet A 124:48–53
3. Huber C, Oulès B, Bertoli B et al (2009) Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 85:706–710
4. Laccone F, Schoner K, Krabichler B et al (2011) Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. Eur J Hum Genet 19:1133–1137
5. Bui C, Huber C, Tuysuz B et al (2014) XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet 94:405–414
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