Article
Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings.
Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2022
Liu Bei, Chen Mengjia, Yang Yanmei, Huang Yingzhi, Qian Yeqing, Dong Minyue
Abstract excerpt
BACKGROUND: PAX2-related disorder is an autosomal dominant disorder characterized by renal and eye abnormalities. Some patients may present with isolated renal abnormalities without obvious ocular abnormalities. It is associated with mutations in paired box gene 2 (PAX2), which is one of the families of paired box transcription factor genes. Studies on mosaicism have been limited in PAX2-related disorder, as only...
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