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Spanish patients with central hypoventilation syndrome
published at : 01/05/2017
To determine the characteristics and outcomes of Spanish patients with CCHS, and detect
clinical areas for improvement. An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015.
The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals.
Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified
PHOX2B mutations in 32 (86.5%) out of 37 patients assessed
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