Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

doi:10.1111/cge.14020

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Article

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Clinical genetics - 1 Oct 2021

Tenorio-Castaño Jair Antonio, Arias Pedro, Fernández-Jaén Alberto, Lay-Son Guillermo, Bueno-Lozano Gloria, Bayat Allan, Faivre Laurence, Gallego Natalia, Ramos Sergio, Butler Kameryn M, Morel Chantal, Hadjiyannakis Stasia, Lespinasse James, Tran-Mau-Them Frederic, Santos-Simarro Fernando, Pinson Lucile, Martínez-Monseny Antonio Federico, O'Callaghan Cord María Del Mar, Álvarez Sara, Stolerman Elliot S, Washington Camerun, Ramos Feliciano J, The S O G R I Consortium, Lapunzina Pablo

Abstract excerpt

Tenorio syndrome (TNORS) (OMIM #616260) is a relatively recent disorder with very few cases described so far. Clinical features included macrocephaly, intellectual disability, hypotonia, enlarged ventricles and autoimmune diseases. Molecular underlying mechanism demonstrated missense variants and a large deletion encompassing RNF125, a gene that encodes for an U3 ubiquitin ligase protein. Since the initial...

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PMID: 34196401
DOI: 10.1111/cge.14020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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