Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

Abstract 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 w...

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Autores principales: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje vanRij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418
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