- A disorder resembling pseudoachondroplasia but without COMP mutationJ W Spranger
Children s Hospital, University of Mainz, Germany
Am J Med Genet A 132:20-4. 2005..It may be suspected in patients with unusually severe dwarfism, severe epi-metaphyseal abnormalities, and persistent platyspondyly...
- A new type of autosomal recessive spondyloepiphyseal dysplasia tardaJ G Leroy
Department of Medical Genetics and Pediatrics, Ghent University Hospital, Ghent, Belgium
Am J Med Genet A 125:49-56. 2004..Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations...