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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review

Lin Zhuo1, Pengfei Ma1, Miaomiao Chen1

  • 1Department of Gastroenterology, Anhui Provincial Children's Hospital, Wangjiang East Road No.39, Hefei, 230051, China.

Orphanet Journal of Rare Diseases
|October 24, 2025
PubMed
Abstract

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Keywords:
Clinical symptomsCongenital immunodeficiency diseaseDEXELF4Novel variantsTreatment