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Article

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.

Journal of medical genetics - 1 Aug 2021

Morbidoni Valeria, Agolini Emanuele, Slep Kevin C, Pannone Luca, Zuccarello Daniela, Cassina Matteo, Grosso Enrico, Gai Giorgia, Salviati Leonardo, Dallapiccola Bruno, Novelli Antonio, Martinelli Simone, Trevisson Eva

Abstract excerpt

BACKGROUND: Dysfunction in non-motile cilia is associated with a broad spectrum of developmental disorders characterised by clinical heterogeneity. While over 100 genes have been associated with primary ciliopathies, with wide phenotypic overlap, some patients still lack a molecular diagnosis. OBJECTIVE: To investigate and functionally characterise the molecular cause of a malformation disorder observed in two...

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Identifiers

PMID: 32747439
DOI: 10.1136/jmedgenet-2020-106833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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