Associated Papers
Congenital central hypoventilation syndrome and ventilatory responses during cardiopulmonary exercise testing.
Sunkonkit K et al.
Pediatric Pulmonology, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
Weese-Mayer DE et al.
Pediatric Research, 2017
Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn.
Szczapa T et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2013
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Trochet D et al.
Human Mutation, 2009
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D et al.
American Journal of Human Genetics, 2005
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