A spectrum of clinical severity of recessive titinopathies in prenatal

Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons. Next-generation sequencing has facilitated the prenatal identification...

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Detalles Bibliográficos
Autores principales: Qi, Yiming, Ji, Xueqi, Ding, Hongke, Wang, Yunan, Liu, Xin, Zhang, Yan, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907677/
https://www.ncbi.nlm.nih.gov/pubmed/36761691
http://dx.doi.org/10.3389/fgene.2022.1064474

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907677/
https://www.ncbi.nlm.nih.gov/pubmed/36761691
http://dx.doi.org/10.3389/fgene.2022.1064474

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