رویکرد توالی نسل آینده هدفمند در بیماران مبتلا به تست سندرم نقره-راسل موجب افزایش میزان تشخیص جهش و اطمینان اطلاعات تعیین کننده برای مدیریت بالینی می شود.

Some of the differential diagnoses detected in the cohort presented here have a major impact on clinical management. Therefore, we emphasize that the molecular defects associated with these clinical pictures should be excluded before the clinical diagnosis “SRS” is made. Finally, we could show that a broad molecular approach including the differential diagnoses of SRS increases the detection rate.