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
Reza Maroofian(National Hospital for Neurology and Neurosurgery), Miriam Schmidts(University Medical Center Freiburg), Haleh Habibi, Abolfazl Rad(Sabzevar University of Medical Sciences), Maryam Najafi(Radboud University Nijmegen), Isabel Schuele(University Medical Center Freiburg), Dinu Antony(University Medical Center Freiburg), Zeineb Bakey(Radboud University Nijmegen)
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