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

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

Abstract 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 repo...

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Bibliographic Details
Main Authors: Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Wiedemann–Steiner syndrome
KMT2A variation
Chinese patients
Phenotypic differences
Online Access:http://link.springer.com/article/10.1186/s13023-018-0909-0

Internet

http://link.springer.com/article/10.1186/s13023-018-0909-0

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