Associated Papers
Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Baron J et al.
Clinical Genetics, 2026
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Mei M et al.
Translational Pediatrics, 2021
A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
Guzoglu N et al.
Clinical Dysmorphology, 2020
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Di Lascio S et al.
Human Mutation, 2018
Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease.
Mehta VJ et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2016
[Congenital central hypoventilation syndrome, report of three cases].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.
Wu HT et al.
Human Mutation, 2009
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
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
Parodi S et al.
Human Mutation, 2008
Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
Hung CC et al.
Electrophoresis, 2007
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