Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

BACKGROUND: Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the p...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Li, Niu, Wang, Yirou, Yang, Yu, Wang, Pengpeng, Huang, Hui, Xiong, Shiyi, Sun, Luming, Cheng, Min, Song, Cui, Cheng, Xinran, Ding, Yu, Chang, Guoying, Chen, Yao, Xu, Yufei, Yu, Tingting, Yao, Ru-en, Shen, Yiping, Wang, Xiumin, Wang, Jian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180513/
https://ncbi.nlm.nih.gov/pubmed/30305169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0909-0
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