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[Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2021

Zhang Yonggang, Zhang Lifen, Zhou Min, Xu Zhiliang

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a patient diagnosed with creatine deficiency syndrome (CDS). METHODS: The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. The level of creatine was determined by using a magnetic resonance spectrum (MRS) method. RESULTS: The patient presented with development delay and poor response to...

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PMID: 34247379
DOI: 10.3760/cma.j.cn511374-20200803-00576

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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