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Thauvin-Robinet-Faivre syndrome

Definition:

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.

References:

[1]. C Thauvin-Robinet, et al. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Clin Genet. 2016 May;89(5):e1-4. [Content Brief]

[2]. Nadia Akawi, et al. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. Am J Med Genet A. 2016 Aug;170(8):2111-8. [Content Brief]

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