Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion

Abstract excerpt

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disorder resulting from heterozygous mutations of the TRPS1 gene. Common craniofacial abnormalities in TRPS patients include micrognathia, hypoplastic zygomatic arch, high arched palate, and occasionally cleft palate. Studies have demonstrated that mice with a heterozygous Trps1 mutation (Trps1+/- mice) have similar features to patients with TRPS,...

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