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Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report

BACKGROUND: Persistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the newborn are rare. The TWIST1 gene is involved in mor...

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Detalles Bibliográficos
Autores principales: Schinagl, Carina, Melum, Guro Reinholt, Rødningen, Olaug Kristin, Bjørgo, Kathrine, Andresen, Jannicke Hanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559830/
https://www.ncbi.nlm.nih.gov/pubmed/28814329
http://dx.doi.org/10.1186/s13256-017-1402-4