PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood (Q48494366)

12 February 2018

title

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood (English)

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congenital central hypoventilation syndrome

main subject

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author

Doug McEvoy

4

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author name string

Nick A Antic

1

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Beth A Malow

2

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Neale Lange

3

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Amy L Olson

5

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Peter Turkington

6

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Wolfram Windisch

7

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Martin Samuels

8

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Cathy A Stevens

9

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Elizabeth M Berry-Kravis

10

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Debra E Weese-Mayer

11

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language of work or name

English

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publication date

27 July 2006

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American Journal of Respiratory and Critical Care Medicine

published in

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volume

174

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issue

8

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page(s)

923-927

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

cites work

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https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

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https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Primary alveolar hypoventilation and response to the respiratory stimulant almitrine

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200605-607CR

10.1164/RCCM.200605-607CR

21 January 2018

Identifiers

DOI

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12 February 2018

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12 February 2018