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Whole exome sequencing revealed a homozygote W58Ffs*10 (c.173_194del) frameshift mutation in the OCLN gene. Of 34 BLC-PMG instances with demonstrable OCLN mutations, only three had renal manifestations, which will be accountable for most of the demises. This is actually the very first instance identified as having main diabetes insipidus and responded to desmopressin treatment to the most readily useful of your understanding, but, this clinical enhancement could not avoi
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