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Article

[Genetic analysis of a child with ectodermal dysplasia caused by variant of EDA gene].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2022

Ye J H, Li D M, Lyu T, Zhao W J, Guo J J, He J, Zhu B S

Abstract excerpt

患儿男，39日龄，因“咳嗽8 d，腹泻3 d，哭闹12 h，面灰3 h”2020年12月就诊于昭通市第二人民医院，患儿于其母孕25周时B超提示小于孕周11 d，左侧鼻骨偏短，右侧鼻骨缺如。出生后无头发、无眉毛、无汗、高热，诊断为“疑似外胚层发育不良”。父母全外显子组基因检测结果示母亲携带EDA基因c.693delC（p.Gln232Argfs*48）杂合变异。对产前诊断留存的羊水DNA样本进行Sanger测序示患儿该位点为半合子变异。.

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Identifiers

PMID: 35922200
DOI: 10.3760/cma.j.cn112140-20211201-01007

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