Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare chan...
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
About this item
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Author / Creator
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Scope and Contents
Contents
Background
KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations.
Methods
Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did n...
Alternative Titles
Full title
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0ca074ff445a4ee0bbde97fd27f87418
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0ca074ff445a4ee0bbde97fd27f87418
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1797
