De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
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G. Mancini | D. Bick | J. Thevenon | B. Cogné | L. Faivre | B. Gérard | C. Thauvin-Robinet | Qiuyun Chen | Chengqi Xu | Y. Duffourd | B. Isidor | O. Bodamer | L. Dure | S. Moutton | S. Bézieau | Q. Wang | D. Helbling | A. Hurst | D. Lehalle | S. Nambot | Lina Liang | S. S. Schrier Vergano | A. de Saint-Martin | A. Vitobello | Yushuang Hu | Xia Li | C. Hung | A. De Saint-Martin | Adelaide Rega