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Article

[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2020

Liu Libing, Gao Xiaojie, Ma Yijiao, Jia Shilei, Li Jun, Ni Fenfen

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH). METHODS: Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. RESULTS: The patient presented with hypophosphatemic rickets, short stature,...

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Identifiers

PMID: 32472541
DOI: 10.3760/cma.j.issn.1003-9406.2020.06.010

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