Diagnosis and recombinant human growth hormone treatment of Wiedemann–Steiner syndrome: discovery of novel KMT2A variants and review of existing literature

Diagnosis and recombinant human growth hormone treatment of Wiedemann–Steiner syndrome: discovery of novel KMT2A variants and review of existing literature

Abstract Purpose Wiedemann–Steiner syndrome (WDSTS) is an autosomal dominant disorder with broad and variable phenotypes including short stature. This study aims to determine the long-term effect of recombinant human growth hormone (rhGH) treatment on WDSTS and summarize the phenotypes and genotypes...

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Bibliographic Details
Main Authors: Mengqin Wang, Jiaqian Hu, Zixia Zhang, Xi Wang, Shuxian Yuan, Yixuan Zhao, Yingxian Zhang, Haiyan Wei, Jiajia Chen, Yaodong Zhang, Yongxing Chen
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Pediatrics
Subjects:
KMT2A
Wiedemann–Steiner syndrome
Recombinant human growth hormone
Online Access:https://doi.org/10.1186/s12887-025-05751-0
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https://doi.org/10.1186/s12887-025-05751-0

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