Article Dans Une Revue ERJ Open Research Année : 2019

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

Aurore Coulomb-L'Hermine

Résumé

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

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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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