https://mocetinostatinhibitor.....com/a-say-associated
While the affected individuals exhibit this genetic variation, their unaffected parents possess a heterozygous carriage of this same alteration. Population databases (gnomAD and ExAC), as well as patient records, have not previously documented this novel variant. These related conditions warrant further consideration. Patient clinical signs and symptoms improved considerably due to sirolimus treatment, accompanied by an o