Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

Objective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai Children′s Medical Center, Shanghai Jiao Tong Un...

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Bibliographic Details
Main Authors: ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun
Format: Article
Language:zho
Published: Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2024-11-01
Series:Shanghai Jiaotong Daxue xuebao. Yixue ban
Subjects:
barth syndrome (bths)
taz gene mutation
cardiomyopathy
neutropenia
Online Access:https://xuebao.shsmu.edu.cn/article/2024/1674-8115/1674-8115-2024-44-11-1406.shtml
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