Variable human phenotype associated with novel deletions of thePHOX2Bgene-Reference-Cited by-同舟云学术

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Variable human phenotype associated with novel deletions of thePHOX2Bgene

Published:2011-08-09 Issue:2 Volume:47 Page:153-161
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr. Pulmonol.

Author:

Jennings Lawrence J.,Yu Min,Rand Casey M.,Kravis Nicole,Berry-Kravis Elizabeth M.,Patwari Pallavi P.,Weese-Mayer Debra E.

Funder

Chicago Community Trust Foundation PHOX2B Patent Fund

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ppul.21527/fullpdf

Reference34 articles.

1. An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management;Weese-Mayer;Am J Respir Crit Care Med,2010

2. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society;Weese-Mayer;Am J Respir Crit Care Med,1999

3. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children;Weese-Mayer;J Pediatr,1992

4. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome;Weese-Mayer;Am J Med Genet,2001

5. Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome;Marazita;Am J Med Genet,2001

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1. Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype;Pediatric Research;2024-01-18

2. Congenital Central Hypoventilation Syndrome;Pediatric Pulmonology;2023-11-17

3. Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature;Molecular Genetics & Genomic Medicine;2023-09-15

4. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?;Journal of Clinical Sleep Medicine;2023-06

5. Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome;Frontiers in Pediatrics;2023-02-15

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