Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
BackgroundCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2024-05-01T00:00:00Z.
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