TY  - JOUR 
TI  - Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
PB  - BioMed Central
PY  - 2016
issn 1752-1947
AB  - Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain
KW  - Medical sciences
KW  - Ciencias  socio biomédicas
KW  - Birth defect
KW  - Enfermedad respiratoria
KW  - Insuficiencia respiratoria
KW  - Recién nacido
KW  - Genética en niños
UR  - http://hdl.handle.net/10906/81642
ER  -