Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
- Clinical and radiographic delineation of odontochondrodysplasia
- Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield
- Goldblatt syndrome in humans
- Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
- The Goldblatt syndrome
- Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta