Article
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.
American journal of medical genetics. Part A - 1 May 2025
De Falco Alessandro, De Gregorio Fabiola, Abate Massimo Eraldo, Paolella Chiara, Nigro Vincenzo, Scala Iris, Brunetti-Pierri Nicola
Abstract excerpt
You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors. We...
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