Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk i...
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths of a 20-alanine stretch (polyAla), is the most frequent
PHOX2B
variant associated with congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy characterized by defective response of the autonomic nervous system to hypoxia and hyperc...
Alternative Titles
Full title
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
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Record Identifier
TN_cdi_proquest_miscellaneous_862792796
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_862792796
Other Identifiers
ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-010-0718-y
