Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference13 articles.
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2. Freisinger P, Finidori G, Maroteaux P: Dysspondylochondromatosis. Am J Med Genet 45:460-464 (1993).
3. Kannu P, Bateman J, Savarirayan R: Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 48:E38-43 (2012).
4. Kenis V, Baindurashvili A, Melchenko E, Ganger R, Grill F, Al Kaissi A: Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis. Ger Med Sci 11:Doc06 (2013).
5. Kozlowski K, Brostrom K, Kennedy J, Lange H, Morris L: Dysspondyloenchondromatosis in the newborn. Report of four cases. Pediatr Radiol 24:311-315 (1994).
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