Multiple CafÃ©-au-lait Macules, and Intertriginous Freckling: Clinical Evidence of a Common Pathway between KIT and Sprouty-Related, Ena/Vasodilator-Stimulated Phosphoprotein Homology-1 Domain Containing Protein 1 (SPRED1).
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.
Genetics in Medicine
The expanding panorama of split hand foot malformation.
American Journal of Medical Genetics
Prenatal sonographic diagnosis of Grebe syndrome.
Journal of Ultrasound in Medicine
Retrospective diagnosis of chondrodysplasia punctata.