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

Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.

Journal of child neurology - 1 Jan 2012

Ferrara Joseph M, Adam Octavian R, Kirwin Susan M, Houghton David J, Shepherd Casey, Vinette Kathy M B, Litvan Irene

Abstract excerpt

Brain-lung-thyroid disease is a rare familial disorder caused by mutations in thyroid transcription factor 1, a gene that regulates neuronal migration. We report the clinical features of ten patients from a single family with a novel gene mutation, including observations regarding treatment. Neurologic features of the kindred included developmental delay, learning difficulties, psychosis, chorea, and dystonia....

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Family Health

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

Share to Genetic Testing

Share to Lung Diseases

Share to Nuclear Proteins

Share to Severity of Illness Index

Share to Thyroid Diseases

Share to Thyroid Nuclear Factor 1

Source

Identifiers

PMID: 21813802
DOI: 10.1177/0883073811413584

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

Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.PMID 21813802Read ↗

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.Semantic proximity Read ↗

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.Semantic proximity Read ↗

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.Semantic proximity Read ↗

NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.Semantic proximity Read ↗

A novel TITF-1 mutation causes benign hereditary chorea with response to levodopaSemantic proximity Read ↗

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.Semantic proximity Read ↗

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.Semantic proximity Read ↗

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.Semantic proximity Read ↗

[Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].Semantic proximity Read ↗

Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.Semantic proximity Read ↗

Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.Semantic proximity Read ↗

Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and miceSemantic proximity Read ↗

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