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...

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Detalles Bibliográficos
Autores principales: Rodrigues Bento, Jotte, Feben, Candice, Kempers, Marlies, van Rij, Maartje, Woiski, Mallory, Devriendt, Koenraad, De Catte, Luc, Baldewijns, Marcella, Alaerts, Maaike, Meester, Josephina, Verstraeten, Aline, Hendson, Willy, Loeys, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
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

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