Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

 Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

 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...

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Bibliographic Details
Main Authors: Nabil Al Macki, Said Al Hanshi, Mohammed Al Ghafri, Ismail Al Rashdi
Format: Article
Language:English
Published: Oman Medical Specialty Board 2011-09-01
Series:Oman Medical Journal
Subjects:
Late onset central hypoventilation syndrome
Alveolar hypoventilation
Autonomic Nervous System
Hirschsprung Disease
Polyalanine repeat
PHOX2B
heterozygous
Online Access:http://journals.indexcopernicus.com/fulltxt.php?ICID=969369
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spelling doaj-f2b01dc94da542eeaae26064efe727872020-11-24T23:24:25ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042011-09-01265356358 Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B GeneNabil Al MackiSaid Al HanshiMohammed Al GhafriIsmail Al Rashdi 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.http://journals.indexcopernicus.com/fulltxt.php?ICID=969369Late onset central hypoventilation syndromeAlveolar hypoventilationAutonomic Nervous SystemHirschsprung DiseasePolyalanine repeatPHOX2Bheterozygous
collection DOAJ
language English
format Article
sources DOAJ
author Nabil Al Macki
Said Al Hanshi
Mohammed Al Ghafri
Ismail Al Rashdi
spellingShingle Nabil Al Macki
Said Al Hanshi
Mohammed Al Ghafri
Ismail Al Rashdi
 Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
Oman Medical Journal
Late onset central hypoventilation syndrome
Alveolar hypoventilation
Autonomic Nervous System
Hirschsprung Disease
Polyalanine repeat
PHOX2B
heterozygous
author_facet Nabil Al Macki
Said Al Hanshi
Mohammed Al Ghafri
Ismail Al Rashdi
author_sort Nabil Al Macki
title  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
title_short  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
title_full  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
title_fullStr  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
title_full_unstemmed  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
title_sort  late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the phox2b gene
publisher Oman Medical Specialty Board
series Oman Medical Journal
issn 1999-768X
2070-5204
publishDate 2011-09-01
description  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.
topic Late onset central hypoventilation syndrome
Alveolar hypoventilation
Autonomic Nervous System
Hirschsprung Disease
Polyalanine repeat
PHOX2B
heterozygous
url http://journals.indexcopernicus.com/fulltxt.php?ICID=969369
work_keys_str_mv AT nabilalmacki lateonsetcentralhypoventilationsyndromeduetoaheterozygouspolyalaninerepeatexpansionmutationinthephox2bgene
AT saidalhanshi lateonsetcentralhypoventilationsyndromeduetoaheterozygouspolyalaninerepeatexpansionmutationinthephox2bgene
AT mohammedalghafri lateonsetcentralhypoventilationsyndromeduetoaheterozygouspolyalaninerepeatexpansionmutationinthephox2bgene
AT ismailalrashdi lateonsetcentralhypoventilationsyndromeduetoaheterozygouspolyalaninerepeatexpansionmutationinthephox2bgene
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