Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome
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DOI: 10.1111/apha.13800
Abstract: Loss‐of‐function KCNMA1 variants cause Liang–Wang syndrome (MIM #618729), a newly identified multiple malformation syndrome with a broad spectrum of developmental and neurological phenotypes. However, the full spectrum of clinical features and underlying pathogenic mechanisms need… read more here.
Keywords: identification functional; analysis two; liang wang; wang syndrome ... See more keywords