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[Two cases of deficiency in ELF4 gene X-linked and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2024

Zhou Y, Wang L L, Zhang C Y, Ding J, Ma M S, Song H M

Abstract excerpt

Objective: To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX). Methods: A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024....

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PMID: 39563044
DOI: 10.3760/cma.j.cn112140-20240425-00289

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