Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3

Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP–binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation. We report the case of a newborn baby girl who developed se...

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Detalles Bibliográficos
Autores principales: El Boustany, P., Epaud, R., Grosse, C., Barriere, F., Grimont-Rolland, E., Carsin, A., Dubus, J.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926270/
https://www.ncbi.nlm.nih.gov/pubmed/29719811
http://dx.doi.org/10.1016/j.rmcr.2018.03.004

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