Work

Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma

Year: 2025

Type: article

Abstract: gene defects in overgrowth syndromes, with only a limited number of cases described globally. This case expands the known clinical and tumor spectrum associated with TROFAS, providing new insights into the pathophysiology of this rare disorder.

Source: Journal of Clinical Research in Pediatric Endocrinology

DOI: 10.4274/jcrpe.galenos.2025.2024-10-12

Authors: Ulku Gul Siraz, Deniz Koçak Göl, Meino Rohlfs, Christoph Klein, Ekrem Unal, Nihal Hatipoglu

Institutions: Erciyes University, Ludwig-Maximilians-Universität München, Hasan Kalyoncu University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $100