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Article

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.

Medicine - 1 Sept 2023

Bi Ye, Kuang Ming-Yang, Li Ming-Long

Abstract excerpt

RATIONALE: The diagnosis of Gentleman syndrome (GS) is usually delayed because the clinical symptoms are easily mistaken. PATIENT CONCERNS: A 19-year-old male patient was referred to endocrinology due to intermittent twitch of extremities for approximately 7 years. DIAGNOSES: The diagnosis of GS was made based on the laboratory and gene detection results. We identified 2 new variants in the SLC12A3 gene [c.857...

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Identifiers

PMID: 37657006
DOI: 10.1097/MD.0000000000034967
PMCID: PMC10476831

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