Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012, we reported on a three-generation, autosomal...

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Detalles Bibliográficos
Autores principales: Shen, Fang, Yang, Yongjia, Zheng, Yu, Tu, Ming, Zhao, Liu, Luo, Zhenqing, Fu, Yuyan, Zhu, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207203/
https://www.ncbi.nlm.nih.gov/pubmed/35734427
http://dx.doi.org/10.3389/fgene.2022.824445

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207203/
https://www.ncbi.nlm.nih.gov/pubmed/35734427
http://dx.doi.org/10.3389/fgene.2022.824445

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