Article
[Clinical and genetic analysis of a patient with rare nephronophthisis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020
Wang Dong, Tong Guixia, Dong Rui, Lyu Yuqiang, Gao Min, Ma Jian, Wan Ya, Pang Huanping, Gai Zhongtao, Liu Yi
Abstract excerpt
OBJECTIVE: To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP). METHODS: Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants. RESULTS: The patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8...
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