Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy

Detalles Bibliográficos
Autores principales: Ellis, Carter, Eason, Chelsea, Snyder, Alan, Siegel, Mark, Pai, Gurpur Shashidhar, Ryan, Erin, Pfendner, Ellen G., Lee, Lara Wine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076645/
https://www.ncbi.nlm.nih.gov/pubmed/33937469
http://dx.doi.org/10.1016/j.jdcr.2021.03.016

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