Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Background: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in south...

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Publicado en:	Pediatric Nephrology Vol. 39; no. 8; pp. 2377 - 2392
Autores principales:	Du, Rong, Zhou, Chengcheng, Chen, Shehong, Li, Tong, Lin, Yunting, Xu, Aijing, Huang, Yonglan, Mei, Huifen, Huang, Xiaoli, Tan, Dongdong, Zheng, Ruidan, Liang, Cuili, Cai, Yanna, Shao, Yongxian, Zhang, Wen, Liu, Li, Zeng, Chunhua
Formato:	research tables/charts Journal Article
Publicado:	Springer Nature Aug2024
Acceso en línea:	Ver este registro en EBSCOhost