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A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.

Clinical genetics - 1 Jul 2026

Umair Muhammad, Ahmed Zaheer, Mahmood Arif, Khan Hammal, Khan Muhammad Jawad, Ali Raja Hussain

Abstract excerpt

Cellular homeostasis is maintained by deubiquitination, which plays critical roles in DNA damage repair, cell cycle progression, signal transduction, transcriptional regulation, and autophagy. The deubiquitination (DUB) module within the Spt-Ada-Gcn5 acetyltransferase (SAGA) complex is encoded by the ATXN7L3 gene. Disease-causing variants in ATXN7L3 have been associated with an autosomal dominant...

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Identifiers

PMID: 41760364
DOI: 10.1111/cge.70156

Genes

ATXN7L3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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