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

Gonçalves, JP; Pinheiro, L; Costa, M; Silva, A; Gonçalves, A; Pereira, A

http://hdl.handle.net/10400.23/556

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Resumo(s)

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.

Palavras-chave

Transportadores de Cassetes de Ligação de ATP Doença da Membrana Hialina Recém-Nascido Proteína ABCA3 Síndrome de Dificuldade Respiratória do Recém-Nascido

URI

http://hdl.handle.net/10400.23/556

Citação

Gene. 2014;534(2):417-20

Editora

Elsevier

Coleções

HB - PED - Artigos

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