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Article

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.

European journal of medical genetics - 1 Jul 2018

Villafuerte Beatriz, Natera-de-Benito Daniel, González Aidy, Mori María A, Palomares María, Nevado Julián, García-Miñaur Sixto, Lapunzina Pablo, González-Granado Luis I, Allende Luis M, Moreno José C

Abstract excerpt

Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 14

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Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 29477862
DOI: 10.1016/j.ejmg.2018.02.007

Genes

PAX9
NFKBIA

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.

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