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

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.

The Journal of clinical endocrinology and metabolism - 1 Sept 2010

Baquedano María Sonia, Ciaccio Marta, Dujovne Noelia, Herzovich Viviana, Longueira Yesica, Warman Diana Monica, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

CONTEXT: Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening. OBJECTIVE: Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia. RESULTS: Patient 1 had a...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Child, Preschool

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

Share to Congenital Hypothyroidism

Share to False Negative Reactions

Share to Infant, Newborn

Share to Neonatal Screening

Share to Pedigree

Share to Protein Conformation

Source

Identifiers

PMID: 20534762
DOI: 10.1210/jc.2010-0223

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

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.PMID 20534762Read ↗

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.Semantic proximity Read ↗

Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.Semantic proximity Read ↗

Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.Semantic proximity Read ↗

Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.Semantic proximity Read ↗

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.Semantic proximity Read ↗

Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.Semantic proximity Read ↗

Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.Semantic proximity Read ↗

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.Semantic proximity Read ↗

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.Semantic proximity Read ↗

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.Semantic proximity Read ↗

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and IrelandSemantic proximity Read ↗

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.Semantic proximity Read ↗

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