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Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
Journal article   Open access   Peer reviewed

Interstitial lung disease of infancy caused by a new NKX2‐1 mutation

Khalid H Safi, John A Bernat, Catherine E Keegan, Ayesha Ahmad, Marc B Hershenson and Manuel Arteta
Clinical case reports, Vol.5(6), pp.739-743
06/2017
DOI: 10.1002/ccr3.901
PMCID: PMC5458033
PMID: 28588801
url
https://doi.org/10.1002/ccr3.901View
Published (Version of record) Open Access

Abstract

Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain–lung–thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis .
thyroid transcription factor‐1 Hypothyroidism interstitial lung disease Case Report Case Reports

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