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Article

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.

European journal of pediatrics - 1 Jan 2005

Willemsen Michel A A P, Breedveld Guido J, Wouda Siep, Otten Barto J, Yntema Jan L, Lammens Martin, de Vries Bert B A

Abstract excerpt

UNLABELLED: A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11 months, and primary hypothyroidism gradually developed during infancy. He had delayed developmental milestones and severe hypotonia that evolved into non-progressive chorea during childhood. He died from large cell lung carcinoma at the age of 23 years. A de novo heterozygous insertion mutation 859-860insC in the...

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

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Source

Identifiers

PMID: 15517377
DOI: 10.1007/s00431-004-1559-x

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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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