A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

@inproceedings{Russo2015A1D,
  title={A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis},
  author={Patrizia Dello Russo and Alessandra Franzoni and Federica Baldan and Cinzia Puppin and Giovanna de Maglio and Carla Pittini and Luigi Cattarossi and Stefano Pizzolitto and Giuseppe Damante},
  booktitle={BMC Medical Genetics},
  year={2015}
}
Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene. We report the clinical and cytogenetic characterization of a… CONTINUE READING
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