Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene

Ismail Al Rashdi; Mohammed Al Ghafri; Said Al Hanshi; Nabil Al Macki

doi:10.5001/omj.2011.87

Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene

Ismail Al Rashdi^*, Mohammed Al Ghafri, Said Al Hanshi, Nabil Al Macki

^*Corresponding author for this work

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Abstract

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

Original language	English
Pages (from-to)	356-358
Number of pages	3
Journal	Oman Medical Journal
Volume	26
Issue number	5
DOIs	https://doi.org/10.5001/omj.2011.87
Publication status	Published - Sept 2011

Keywords

Alveolar hypoventilation
Autonomic nervous system
Heterozygous
Hirschsprung disease
Late onset central hypoventilation syndrome
PHOX2B
Polyalanine repeat

ASJC Scopus subject areas

Medicine(all)

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10.5001/omj.2011.87

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abstract = "This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.",

keywords = "Alveolar hypoventilation, Autonomic nervous system, Heterozygous, Hirschsprung disease, Late onset central hypoventilation syndrome, PHOX2B, Polyalanine repeat",

author = "{Al Rashdi}, Ismail and {Al Ghafri}, Mohammed and {Al Hanshi}, Said and {Al Macki}, Nabil",

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AU - Al Ghafri, Mohammed

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AU - Al Macki, Nabil

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AB - This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

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KW - Polyalanine repeat

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Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene

Abstract

Keywords

ASJC Scopus subject areas

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