Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
138個類固醇抗藥性腎症家族中的拷貝數變異分析,識別出兩個家族中PLCE1和NPHS2的因果同源性缺失。
Pediatr Nephrol 2024-03-31
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
在符合嚴格定義的類固醇抵抗性腎病綜合症中,單基因變異的發生率低於預期。
Pediatr Nephrol 2024-08-02