Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literature
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35604/fullpdf
Reference20 articles.
1. Short stature and metaphyseal dysplasia due to cartilage-hair hypoplasia;Conwell;J Pediatr Endocrinol Metab,2008
2. Radiologic changes in infancy in McKusick cartilage hair hypoplasia;Glass;Am J Med Genet,1999
3. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia;Hermanns;Hum Mol Genet,2005
4. RMRP mutations in cartilage-hair hypoplasia;Hermanns;Am J Med Genet Part A,2006
5. Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia;Le Merrer;Eur J Pediatr,1991
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