A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome

A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome

Abstract Background Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism. Case presentation Here, we repo...

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Bibliographic Details
Main Authors: Sifeng Wang, Shuyuan Yan, Jingjun Xiao, Ying Chen, Anji Chen, Aimin Deng, Tuanmei Wang, Jun He, Xiangwen Peng
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Molecular Cytogenetics
Subjects:
Wiedemann–Steiner syndrome
KMT2A
ADAMTS8
Early teething
Rapid tooth replacement
Dysplastic enamel
Online Access:https://doi.org/10.1186/s13039-023-00654-0

Internet

https://doi.org/10.1186/s13039-023-00654-0

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