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...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Soyez le premier à ajouter un commentaire!