Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. Am J Med Genet A. 2010 Jun;152A(6):1550-4.

PubMed ID: 
20503334