NIH R01 · 2025
The role of GATA3 in hemifacial microsomia
Abstract Hemifacial microsomia (HFM) spans an array of human congenital craniofacial birth defect syndromes characterized by asymmetric malformation or underdevelopment of the orbits (maxilla and zygoma), mandible, outer and middle ear structures, craniofacial nerves and soft tissue structures. These elements are derived from cranial neural crest cells (NCCs) that populate the pharyngeal arches. HFM is the second most common facial birth defect behind cleft palate, though unlike cleft palate, very few genes have a proven association with HFM. One of the few genes found repeatedly in GWAS studies is the transcription factor GATA3, which is the basis of this proposal. We have recently shown…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.