Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report

一名患有 LMX1B 同源结构域新型杂合错义突变的儿童患有早发性终末期肾病的指甲-髌骨综合征：病例报告