Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood - Archive ouverte HAL Access content directly
Journal Articles ERJ Open Research Year : 2019

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

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Aurore Coulomb-L'Hermine

Abstract

Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres
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Origin : Publication funded by an institution

Dates and versions

inserm-03798670 , version 1 (05-10-2022)

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Cite

Effrosyni D Manali, Marie Legendre, Nadia Nathan, Caroline Kannengiesser, Aurore Coulomb-L'Hermine, et al.. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood. ERJ Open Research, 2019, 5 (3), pp.00066-2019. ⟨10.1183/23120541.00066-2019⟩. ⟨inserm-03798670⟩
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