(Q34472808)

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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology

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scholarly article

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2 August 2017

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology (English)

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Europe PubMed Central

PubMed publication ID

2 August 2017

congenital disorder

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congenital central hypoventilation syndrome

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Mary L. Marazita

9

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Mary L Marazita

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2 August 2017

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Emily S Todd

1

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2 August 2017

Seth M Weinberg

2

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2 August 2017

Elizabeth M Berry-Kravis

3

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2 August 2017

Jean M Silvestri

4

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2 August 2017

Anna S Kenny

5

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2 August 2017

Casey M Rand

6

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2 August 2017

Lili Zhou

7

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2 August 2017

Brion S Maher

8

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2 August 2017

Debra E Weese-Mayer

10

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2 August 2017

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publication date

2 December 2005

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2 August 2017

Pediatric Research

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2 August 2017

59

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2 August 2017

1

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2 August 2017

39-45

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2 August 2017

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Molecular analysis of congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Patterning of neural crest derivatives in the avian embryo: in vivo and in vitro studies

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Digital two-dimensional photogrammetry: a comparison of three techniques of obtaining digital photographs

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

PMX2B, a new candidate gene for Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Primary alveolar hypoventilation and response to the respiratory stimulant almitrine

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000191814.73340.1D

21 January 2018

Identifiers

10.1203/01.PDR.0000191814.73340.1D

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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PubMed publication ID

1 reference

Europe PubMed Central

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2 August 2017

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