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Article

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

BMC pediatrics - 3 Jul 2025

Wang Mengqin, Hu Jiaqian, Zhang Zixia, Wang Xi, Yuan Shuxian, Zhao Yixuan, Zhang Yingxian, Wei Haiyan, Chen Jiajia, Zhang Yaodong, Chen Yongxing

Abstract excerpt

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 of WDSTS. METHODS: We analyzed the clinical and genetic features of five patients with WDSTS, and comprehensively reviewed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40604511
DOI: 10.1186/s12887-025-05751-0
PMCID: PMC12224386

Genes

KMT2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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