Disease: Metaphyseal dysplasia maxillary hypoplasia brachydactyly
- A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication
- Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
- Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant
- Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2
- RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease