https://www.selleckchem.com/pr....oducts/mi-773-sar405
This case is the first to describe a wide intrafamilial phenotypic spectrum of SLOS as a result of the same DHCR7 genotype. This case also supports the findings of others that a normal or near normal development should not exclude SLOS. As demonstrated in this case exclusion of a metabolic diagnosis because of a negative biochemical marker such as 7-DHC is not absolute and if clinical suspicion remains genomic sequencing is warranted.The inhibition of factor XIa (FXIa) is a trending paradigm for the development of new generatio
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