Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

INTRODUCTION: Monogenetic renal diseases, including recessively inherited nephrotic syndromes, represent a significant health burden despite being rare conditions. Precise diagnosis, including identification of the underlying molecular cause, is especially difficult in low-income countries and/or if...

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Detalles Bibliográficos
Autores principales: Maroofian, Reza, Schuele, Isabel, Najafi, Maryam, Bakey, Zeineb, Rad, Abolfazl, Antony, Dinu, Habibi, Haleh, Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224678/
https://www.ncbi.nlm.nih.gov/pubmed/30450471
http://dx.doi.org/10.1016/j.ekir.2018.07.015

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