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Article

White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations.

Acta neurologica Belgica - 1 Jun 2021

Türay Sevim, Eröz Recep

Abstract excerpt

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and...

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PMID: 33837909
DOI: 10.1007/s13760-021-01671-9

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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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