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Article

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

The Journal of pediatrics - 1 Aug 2004

Doyle Daniel A, Gonzalez Iris, Thomas Becky, Scavina Mena

Abstract excerpt

OBJECTIVE: To study the NKX2-1 gene in two half-siblings with elevated thyroid-stimulating hormone (TSH) on state screen, prolonged neonatal respiratory distress despite term gestations, and persistent ataxia, dysarthria, and developmental delay. STUDY DESIGN: We amplified and sequenced DNA samples from blood or buccal swab for subjects and their unaffected siblings. RESULTS: The same mutation that prevents...

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Identifiers

PMID: 15289765
DOI: 10.1016/j.jpeds.2004.04.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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