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

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, nee...

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Autores principales: Safi, Khalid H., Bernat, John A., Keegan, Catherine E, Ahmad, Ayesha, Hershenson, Marc B., Arteta, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458033/
https://www.ncbi.nlm.nih.gov/pubmed/28588801
http://dx.doi.org/10.1002/ccr3.901
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author Safi, Khalid H.
Bernat, John A.
Keegan, Catherine E
Ahmad, Ayesha
Hershenson, Marc B.
Arteta, Manuel
author_facet Safi, Khalid H.
Bernat, John A.
Keegan, Catherine E
Ahmad, Ayesha
Hershenson, Marc B.
Arteta, Manuel
author_sort Safi, Khalid H.
collection PubMed
description 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.
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spelling pubmed-54580332017-06-06 Interstitial lung disease of infancy caused by a new NKX2‐1 mutation Safi, Khalid H. Bernat, John A. Keegan, Catherine E Ahmad, Ayesha Hershenson, Marc B. Arteta, Manuel Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-04-04 /pmc/articles/PMC5458033/ /pubmed/28588801 http://dx.doi.org/10.1002/ccr3.901 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Safi, Khalid H.
Bernat, John A.
Keegan, Catherine E
Ahmad, Ayesha
Hershenson, Marc B.
Arteta, Manuel
Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title_full Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title_fullStr Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title_full_unstemmed Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title_short Interstitial lung disease of infancy caused by a new NKX2‐1 mutation
title_sort interstitial lung disease of infancy caused by a new nkx2‐1 mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458033/
https://www.ncbi.nlm.nih.gov/pubmed/28588801
http://dx.doi.org/10.1002/ccr3.901
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