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

Coexistence of THRB and TBG gene mutations in a Turkish family.

The Journal of clinical endocrinology and metabolism - 1 Jun 2013

Ferrara Alfonso Massimiliano, Cakir Mehtap, Henry Phillip H, Refetoff Samuel

Abstract excerpt

OBJECTIVE: Resistance to thyroid hormone is a syndrome characterized by high serum free T4 levels and unsuppressed serum TSH concentration. Thyroxine-binding globulin complete deficiency manifests with low serum total T4 and T3 levels and normal serum TSH concentration. Our objective is to describe a family with the coexistence of resistance to thyroid hormone and thyroxine-binding globulin complete deficiency....

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Thyroid Function Tests
Share to Thyroid Hormone Receptors beta

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

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 23633200
DOI: 10.1210/jc.2013-1413
PMCID: PMC3667268

Genes

THRB

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

Coexistence of THRB and TBG gene mutations in a Turkish family.PMID 23633200Read ↗

A rare mutation in THRB gene of resistance to thyroid hormone: a case report of a Chinese pedigree.Semantic proximity Read ↗

Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.Semantic proximity Read ↗

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.Semantic proximity Read ↗

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.Semantic proximity Read ↗

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.Semantic proximity Read ↗

A case of thyroid hormone resistance: a rare mutation.Semantic proximity Read ↗

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.Semantic proximity Read ↗

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.Semantic proximity Read ↗

Thyroid Hormone Resistance: Multicentrical Case Series Study.Semantic proximity Read ↗

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).Semantic proximity Read ↗

Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.Semantic proximity Read ↗

Resistance to Thyroid Hormone Beta: A Focused Review.Semantic proximity Read ↗

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