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SMAD6-deficiency in human genetic disorders

SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ventricular obstruction and conotruncal defects, cr...

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Detalles Bibliográficos
Autores principales: Luyckx, Ilse, Verstraeten, Aline, Goumans, Marie-José, Loeys, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9681871/
https://www.ncbi.nlm.nih.gov/pubmed/36414630
http://dx.doi.org/10.1038/s41525-022-00338-5