D. Smith

Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.

R. Naviaux, W. Nyhan, M. Bodman, 2001, Archives of neurology.

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)

R. Sutphen, G. Herman, R. Kelley, 2002, Genetics in Medicine.

A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

W. Cheung, E. Kwan, L. Low, 2006, Bone.