Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. Case report: Proband. A girl, hospitali...

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Bibliographic Details
Main Authors: Eva Klaskova, Jiri Drabek, Milada Hobzova, Vratislav Smolka, Miroslav Seda, Jiri Hyjanek, Rastislav Slavkovsky, Jana Stranska, Martin Prochazka
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2016-12-01
Series:Biomedical Papers
Subjects:
congenital central hypoventilation syndrome
phox2b gene
late-onset form
respiratory failure
Online Access:https://biomed.papers.upol.cz/artkey/bio-201604-0006_Significant_phenotype_variability_of_congenital_central_hypoventilation_syndrome_in_a_family_with_polyalanine_e.php

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