Disease: Craniometaphyseal dysplasia- autosomal recessive type
- "Osteopetrosis" in the Fairbank Collection
- A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia
- Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
- Osteopetrosis in South Africa. The benign, lethal and intermediate forms
- Radiographic features of craniometadiaphyseal dysplasia, wormian bone type
- Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type