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Article

Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Jun 2024

Turkkahraman Doga, Gullu Merve, Tekin Suat, Kalkan Tarkan

Abstract excerpt

OBJECTIVES: To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH). METHODS: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed. RESULTS: In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected...

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Identifiers

PMID: 38736368
DOI: 10.1515/jpem-2023-0506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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