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

ConclusionThe current report presents the first antenatal presentation of a pathogenicKCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth.

Source: Molecular Genetics & Genomic Medicine - September 10, 2021 Category: Genetics & Stem Cells Authors: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje Rij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys Tags: CLINICAL REPORT Source Type: research