Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, that is known to be implicated in the FGF signaling pathway.
Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L
タイトル
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
