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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… Click to show full 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 full elucidation.
Keywords:
identification functional;
analysis two;
liang wang;
wang syndrome;
functional analysis;
kcnma1 variants
Journal Title: Acta Physiologica
Year Published: 2022
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Journal Title: Acta Physiologica
Year Published: 2022
Link to full text (if available)
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recommendations!