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Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
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 div...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580096/ https://www.ncbi.nlm.nih.gov/pubmed/34499417 http://dx.doi.org/10.1002/mgg3.1797 |