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Article

TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

American journal of medical genetics. Part A - 1 Mar 2020

Diaz Jullianne, Berger Seth, Leon Eyby

Abstract excerpt

The transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3) gene encodes a transcription factor that regulates embryonic stem cell (ESC) differentiation. Its phosphorylation by the lysosomal Rag GTPase signaling pathway leads to cytoplasmic sequestration and inactivation promoting ESC differentiation and exit from pluripotency. Somatic translocations of this X-linked gene cause papillary renal cell...

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Identifiers

PMID: 31833172
DOI: 10.1002/ajmg.a.61437

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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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