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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.

中文翻译:

KCNMA1相关病理学的两种新表现——扩展一种罕见离子通道病的临床表型

KCNMA1突变最近与广泛的畸形、胃肠道、心血管和神经系统表现有关。
更新日期:2021-11-10
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