Case reportUnusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3
Under a Creative Commons license
open access
Keywords
ABCA3 deficiency
Compound heterozygous frameshift mutation
Neonatal respiratory failure
Tracheostomy
Mechanical ventilation
Ethical dilemma
Abbreviations
ABCA3
Adenosine triphosphate-binding cassette transporter subfamily A member 3
Cited by (0)
© 2018 The Authors. Published by Elsevier Ltd.