Clinical findings of individuals homozygous for <i>HYAL2</i> mutations

NIAID Data Ecosystem2026-03-10 收录

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Clinical findings of individuals homozygous for HYAL2 mutations

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2017-02-01

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Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized tha

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Homozygous familial hypercholesterolaemia (HoFH) and compound heterozygous FH (cHeFH) are rare disorders caused by disease-causing variants in both alleles of the LDLR or other FH-related genes. We pr

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登革热血清型

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BackgroundMalaysia experienced an unprecedented dengue outbreak from the year 2014 to 2016 that resulted in an enormous increase in the number of cases and mortality as compared to previous years. The

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Clinical findings of individuals homozygous for <i>HYAL2</i> mutations

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