与NPHP1同胞性全基因缺失相关的多种视网膜-表型在患有功能衰竭的患者中

Gavin Esson1, Ian Logan1, Katrina Wood2

  • 1Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

概括

基因检测确定了两名患有无法解释的功能衰竭和视网膜表型的患者的1型Senior-Løken综合征. 早期遗传诊断可以改善罕见病的管理和家庭风险评估.

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