Associated Papers
Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature.
Cosentino A et al.
Journal of Applied Genetics, 2025
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma.
Siraz UG et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Kılıç E et al.
American Journal of Medical Genetics. Part A, 2024
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Duzenli T et al.
American Journal of Medical Genetics. Part A, 2023
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Thauvin-Robinet C et al.
Clinical Genetics, 2016
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