Author

A. Vitobello

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Open access Oct 2026

A Familial Case of Thauvin-Robinet-Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation.

Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107) is a recently identified autosomal recessive disorder characterised by syndromic overgrowth, facial dysmorphism, mild intellectual disability, variable congenital anomalies, and occasional tumour occurrence. TROFAS results from homozygous or compound heterozygous v...

F. Ruscitti, Xénia Latypova, Faustine Ageorges et al. · Clinical Genetics · 0 citations

#gene editing Open access Sep 2026

TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome

Light is shed on TCF4 as a key regulator of neural crest-derived lineages that contribute to craniofacial and Enteric Nervous System development and a new perspective on two major clinical features of PTHS is provided.

M. Orefice, Francesca Remondino, Irene Pieraccioni et al. · Frontiers in Cell and Develo... · 0 citations

Open access Sep 2026

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.

S. Efthymiou, K. Tabata, H. Dafsari et al. · medRxiv · 0 citations