Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2021

Abali Saygin, Yavas Abali Zehra, Yararbas Kanay, Semiz Serap

Abstract excerpt

OBJECTIVES: Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene. CASE PRESENTATION: We report, a three-year-old boy with FDH due to p.R242P (or p.R218P without signal peptide) mutation in the ALB gene with a phenotype characterized by extremely high serum total and free thyroxine concentrations. His parents had...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Prognosis

Source

Identifiers

PMID: 34142517
DOI: 10.1515/jpem-2021-0087

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia.PMID 34142517Read ↗

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

Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis.Semantic proximity Read ↗

A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.Semantic proximity Read ↗

Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis.Semantic proximity Read ↗

Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.Semantic proximity Read ↗

Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene.Semantic proximity Read ↗

Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.Semantic proximity Read ↗

Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function TestsSemantic proximity Read ↗

Inherited defects of thyroxine-binding proteins.Semantic proximity Read ↗

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.Semantic proximity Read ↗

Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.Semantic proximity Read ↗

Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.