Total: 1 |
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PMID (PMCID) | ||
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15211652 |
MIXED_SAMPLE | Infant, Newborn |
Clinical and genetic heterogeneity in Desbuquois dysplasia. | ||
Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Am J Med Genet A. 2004;128A(1):29-32. |
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Patients with Desbuquois dysplasia can be divided in two groups, depending on whether hand changes include an extra ossification center distal to the second metacarpal and whether phalangeal dislocations are present or absent. |