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Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method

BACKGROUND: Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among th...

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Detalles Bibliográficos
Autores principales:	Almpani, Konstantinia, Liberton, Denise K., Jani, Priyam, Keyvanfar, Cyrus, Mishra, Rashmi, Curry, Natasha, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A., Lee, Janice S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554024/ https://www.ncbi.nlm.nih.gov/pubmed/34916229 http://dx.doi.org/10.1136/jmedgenet-2021-107695

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