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

ERJ Open Research
Effrosyni D ManaliSpyros A Papiris

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

References

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Citations

Aug 29, 2019·Journal of Clinical Medicine·Nadia NathanAnnick Clement
Apr 3, 2020·Current Opinion in Pulmonary Medicine·Dymph KlayColine H M van Moorsel
Dec 16, 2020·Children·Valentina Agnese FerraroSilvia Carraro

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Methods Mentioned

BETA
biopsy
biopsies

Clinical Trials Mentioned

NCT02615938

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