PHOX2B gene mutation in a patient with late-onset central hypoventilation-Reference-Cited by-同舟云学术

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PHOX2B gene mutation in a patient with late-onset central hypoventilation

Published:2004 Issue:4 Volume:38 Page:349-351
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr. Pulmonol.

Author:

Trang Ha,Laudier B�atrice,Trochet Delphine,Munnich Arnold,Lyonnet Stanislas,Gaultier Claude,Amiel Jeanne

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference8 articles.

1. Congenital central hypoventilation syndrome: An update

2. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

3. Molecular analysis of congenital central hypoventilation syndrome

4. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

5. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

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

2. Disorders of Breathing During Sleep;Kendig's Disorders of the Respiratory Tract in Children;2019

3. The genetics of congenital central hypoventilation syndrome: clinical implications;The Application of Clinical Genetics;2018-11

4. Congenital central hypoventilation syndrome mimicking mitochondrial disease;Clinical Case Reports;2018-01-19

5. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome;American Journal of Medical Genetics Part A;2017-03-29

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