[Genetic analysis of a child with X-linked familial Behcet-like autoinflammatory syndrome-2 due to variant of ELF4 gene].

The hemizygote c.687C>G missense variant of the ELF4 gene probably underlay the AIFBL2 in this child, which has provided a basis for his clinical diagnosis and genetic counseling.

Authors

Fang Zhou (ORCID: https://orcid.org/0000-0003-0189-3392)
Zhiyi Xia
Bing Quan (ORCID: https://orcid.org/0000-0003-1821-2274)
Ying Liu (ORCID: https://orcid.org/0000-0001-7710-0809)

Institutions

Zhengzhou Children's Hospital (CN)

Publication Details

Journal: PubMed
Published: 2025-08-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20250211-00069
Primary Topic: Otitis Media and Relapsing Polychondritis
Type: article
Field-Weighted Citation Impact: 0.00

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article

[Genetic analysis of a child with X-linked familial Behcet-like autoinflammatory syndrome-2 due to variant of ELF4 gene].

Fang Zhou, Zhiyi Xia, Bing Quan, Ying Liu

Aug 10, 2025

PubMed

Otitis Media and Relapsing Polychondritis

article

[Genetic analysis of a child with X-linked familial Behcet-like autoinflammatory syndrome-2 due to variant of ELF4 gene].

Fang Zhou, Zhiyi Xia, Bing Quan, Ying Liu

August 10, 2025article en

Abstract

The hemizygote c.687C>G missense variant of the ELF4 gene probably underlay the AIFBL2 in this child, which has provided a basis for his clinical diagnosis and genetic counseling.

PubMedVol. 42(8)

Zhengzhou Children's Hospital (CN)

Openalex Percentile: Top 58%

Otitis Media and Relapsing Polychondritis

DOI Source OpenAlex

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[Genetic analysis of a child with X-linked familial Behcet-like autoinflammatory syndrome-2 due to variant of ELF4 gene]. — Fang Zhou, Zhiyi Xia, et al. · PubMed (2025) | TGRS Research Map | TGRS