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

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. http://bit.ly/2LzMNOE.

• Manali, E. D.
• Legendre, M.
• Nathan, N.
• Kannengiesser, C.
• Coulomb-L'Hermine, A.
• Tsiligiannis, T.
• Tomos, P.
• Griese, M.
• Borie, R.
• Clement, A.
• Amselem, S.
• Crestani, B.
• Papiris, S. A.