Two novel presentations of KCNMA1-related pathology––Expanding the clinical phenotype of a rare channelopathy,Molecular Genetics & Genomic Medicine

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Two novel presentations of KCNMA1-related pathology––Expanding the clinical phenotype of a rare channelopathy
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-09-09 , DOI: 10.1002/mgg3.1797
Jotte Rodrigues Bento ₁ , Candice Feben ₂ , Marlies Kempers ₃ , Maartje van Rij _{3,

4} , Mallory Woiski ₄ , Koenraad Devriendt ₅ , Luc De Catte ₆ , Marcella Baldewijns ₆ , Maaike Alaerts ₁ , Josephina Meester ₁ , Aline Verstraeten ₁ , Willy Hendson ₇ , Bart Loeys _{1,

3}

Affiliation

KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro-intestinal, cardiovascular, and neurological manifestations.

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