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Article

New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.

American journal of medical genetics. Part A - 1 Mar 2024

Kılıç Esra, Koşukcu Can

Abstract excerpt

Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. It is caused by homozygous or compound heterozygous FIBP gene mutations. The FIBP gene is located on the 11q13.1 region and codes the acidic fibroblast growth factor intracellular binding protein, which is...

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PMID: 37876348
DOI: 10.1002/ajmg.a.63449

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