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Article

TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.

The Journal of clinical endocrinology and metabolism - 1 Jan 2022

Mori Jun, Umemura Atsushi, Satake Wataru, Cha Pei-Chieng, Suzuki Yutaka, Itoh Kyoko, Chiyonobu Tomohiro

Abstract excerpt

CONTEXT: Nonalcoholic fatty liver disease (NAFLD) is becoming a major issue worldwide, even in children. Multiple parallel hits hypothesis has been suggested as progress of NAFLD, but the mechanism of NAFLD is not completely understood. β-Tubulin is essential in mitoses, neuronal migration, and axon guidance during neuronal development. Pathogenic variants in the TUBB3 gene were shown to be associated with a wide...

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Identifiers

PMID: 34435630
DOI: 10.1210/clinem/dgab628

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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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