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Article

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Cell and tissue research - 1 May 2024

De Mori Roberta, Tardivo Silvia, Pollara Lidia, Giliani Silvia Clara, Ali Eltahir, Giordano Lucio, Leuzzi Vincenzo, Fischetto Rita, Gener Blanca, Diprima Santo, Morelli Marco J, Monti Maria Cristina, Sottile Virginie, Valente Enza Maria

Abstract excerpt

Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely...

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Identifiers

PMID: 38502237
DOI: 10.1007/s00441-024-03876-9
PMCID: PMC11055696

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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