Open access
Jan 2026
Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia‐Like Phenotype
The findings establish a causal link between MSX2 upstream duplications and CCD‐like phenotypes, emphasizing the role of epigenetic mechanisms and TAD structures in regulating skeletal development.
Mamiko Yamada, M. Cleghorn, Prabhakara Krishnamurthy et al.
· Human Mutation · 0 citations