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C80-A EVERYTHING YOU NEED TO KNOW ABOUT BRONCHOPULMONARY DYSPLASIA, CYSTIC FIBROSIS AND DIFFUSE PARENCHYMAL LUNG DISEASES: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations

by Borie, R , Lejeune, S , Crestani, B , Nattes, E , Delestrain, C , Fanen, P , Nathan, N , Couderc, R , Funalot, B , Bosdure, E , Gibertini, I , Thumerelle, C , Carsin, A , Fauroux, B , Balinotti, J , Marchand-Adam, S , De Becdelievre, A , Dubus, J-C , Louha, M , Epaud, R , Houdouin, V , Deschildre, A

in Lung diseases / Mutation / Patients / Respiratory distress syndrome / Thyroid gland / Transcription factors

2017

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C80-A EVERYTHING YOU NEED TO KNOW ABOUT BRONCHOPULMONARY DYSPLASIA, CYSTIC FIBROSIS AND DIFFUSE PARENCHYMAL LUNG DISEASES: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations

in Lung diseases / Mutation / Patients / Respiratory distress syndrome / Thyroid gland / Transcription factors

2017

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C80-A EVERYTHING YOU NEED TO KNOW ABOUT BRONCHOPULMONARY DYSPLASIA, CYSTIC FIBROSIS AND DIFFUSE PARENCHYMAL LUNG DISEASES: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations

in Lung diseases / Mutation / Patients / Respiratory distress syndrome / Thyroid gland / Transcription factors

2017

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Journal Article

C80-A EVERYTHING YOU NEED TO KNOW ABOUT BRONCHOPULMONARY DYSPLASIA, CYSTIC FIBROSIS AND DIFFUSE PARENCHYMAL LUNG DISEASES: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations

Borie, R,

Lejeune, S,

Crestani, B,

Nattes, E,

Delestrain, C,

Fanen, P,

Nathan, N,

Couderc, R,

Funalot, B,

Bosdure, E,

Gibertini, I,

Thumerelle, C,

Carsin, A,

Fauroux, B,

Balinotti, J,

Marchand-Adam, S,

De Becdelievre, A,

Dubus, J-C,

Louha, M,

Epaud, R,

Houdouin, V,

Deschildre, A

2017

Overview

Various pulmonary phenotypes have been described, including RDS in term infants, ILD in children, and more recently in adults Aim: To describe the pulmonary phenotypes in patients with NKX2-1 mutations, including the clinical and radiological features, course of treatment and outcome. Methods: We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease.

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Publisher

Oxford University Press

Subject

Lung diseases

/ Mutation

/ Patients

/ Respiratory distress syndrome

/ Thyroid gland

/ Transcription factors