Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
BackgroundThe NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay,...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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