Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrom...

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Bibliographic Details
Main Author: Gonçalves, JP (author)
Other Authors: Pinheiro, L (author), Costa, M (author), Silva, A (author), Gonçalves, A (author), Pereira, A (author)
Format: article
Language:eng
Published: 2013
Subjects:
Transportadores de Cassetes de Ligação de ATP
Doença da Membrana Hialina
Recém-Nascido
Proteína ABCA3
Síndrome de Dificuldade Respiratória do Recém-Nascido
Online Access:http://hdl.handle.net/10400.23/556
Country:Portugal
Oai:oai:repositorio.hospitaldebraga.pt:10400.23/556
Description
Summary:We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

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