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Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome

Loeys–Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1), TGFBR2, mothers against decapentaplegic homolog 2 (SMAD2), SMAD3, TGFB2, or TGFB3. It is characterized by aggressive v...

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Detalles Bibliográficos
Autores principales:	Luo, Xi, Deng, Shan, Jiang, Ying, Wang, Xiang, Al-raimi, Abdulrahman Mustafa Ahmed, Wu, Long, Liu, Xiaobin, Song, Yu, Chen, Xiao, Zhu, Feng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266969/ https://www.ncbi.nlm.nih.gov/pubmed/32528524 http://dx.doi.org/10.3389/fgene.2020.00479

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