WDR26-related Skraban–Deardorff syndrome: clinical, genetic and pathomechanistic insights

WDR26-related Skraban–Deardorff syndrome: clinical, genetic and pathomechanistic insights

Abstract WDR26 mutations have recently been linked to Skraban–Deardorff syndrome (SKDEAS). While most WDR26 variants are truncating and are expected to destabilize the protein, the impact of missense variants on protein stability remains unclear. To delineate the clinical and genetic characteristics...

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Bibliographic Details
Main Authors: Xueqin Lin, Hui Chen, Youfeng Zhou, Pan Peng, Bin Lei, Shichen Zhou, Saying Zhu, Tobias Stauber, Hailan He, Jing Peng
Format: Article
Language:English
Published: BMC 2025-08-01
Series:European Journal of Medical Research
Subjects:
WDR26
Skraban–Deardorff syndrome
Loss-of-function
Proteasomal degradation
Cell proliferation
Online Access:https://doi.org/10.1186/s40001-025-03024-1
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https://doi.org/10.1186/s40001-025-03024-1

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