Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome

Conclusion: Both children with MEDNIK syndrome exhibited heterogeneous clinical phenotypes. Sparse teeth may be a previously unnoticed feature of MEDNIK syndrome. The pathogenic c.430-1G>A homozygous variant enriches the mutation spectrum of AP1S1. This mutation causes a frameshift mutation in the p...

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Hauptverfasser:	Lifen Duan, Ru Shen, Guoyan Yin, Ruixi Tao, Yi Zhang, Wei Yu, Lishimeng Bao, Weitao Ye, Runxiu Yin, Xin Tian
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2025-01-01
Schriftenreihe:	International Journal of Genomics
Online-Zugang:	http://dx.doi.org/10.1155/ijog/4385128
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