Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome andFKBP14-related Ehlers-Danlos syndrome
Author:
Affiliation:
1. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia
2. Department of Anatomy and Cell Biology, College of Medicine; Alfaisal University; Riyadh Saudi Arabia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference14 articles.
1. Umbilical dysmorphology. The importance of contemplating the belly button;Friedman;Clin Genet,1985
2. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A);Tomatsu;Hum Mutat,2005
3. Mutations in FKBP14 cause a variant of ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss;Baumann;Am J Human Genet,2012
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