P El Boustany R Epaud C Grosse F Barriere E Grimont-Rolland A Carsin J C Dubus
10.1016/j.rmcr.2018.03.004
Respir Med Case Rep
2018 Mar 6;23:173-175.
abca3 deficiency abca3, adenosine triphosphate-binding cassette transporter subfamily a member 3 compound heterozygous frameshift mutation ethical dilemma mechanical ventilation neonatal respiratory failure tracheostomy
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29719811/
Case Reports
PMC5926270
29719811
Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3
2018