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

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 var...

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Veröffentlicht in:	Acta neurologica Belgica 2021-06, Vol.121 (3), p.749-755
Hauptverfasser:	Turay, Sevim, Eroz, Recep
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Clinical Neurology Life Sciences & Biomedicine Medicine/Public Health Neurology Neuroradiology Neurosciences Neurosciences & Neurology Original Article Science & Technology
Online-Zugang:	Volltext
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