A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic va...

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Detalhes bibliográficos
Publicado no:Yonsei Med J
Main Authors: Ma, Youngeun, Jang, Mi-Ae, Yoo, Hye Soo, Ahn, So Yoon, Sung, Se In, Chang, Yun Sil, Ki, Chang-Seok, Park, Won Soon
Formato: Artigo
Idioma:Inglês
Publicado em: Yonsei University College of Medicine 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5368159/
https://ncbi.nlm.nih.gov/pubmed/28332379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2017.58.3.672
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