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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Detalles Bibliográficos
Autores principales: Ma, Youngeun, Jang, Mi-Ae, Yoo, Hye Soo, Ahn, So Yoon, Sung, Se In, Chang, Yun Sil, Ki, Chang-Seok, Park, Won Soon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368159/
https://www.ncbi.nlm.nih.gov/pubmed/28332379
http://dx.doi.org/10.3349/ymj.2017.58.3.672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368159/
https://www.ncbi.nlm.nih.gov/pubmed/28332379
http://dx.doi.org/10.3349/ymj.2017.58.3.672

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