A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
Abstract Background Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder that affects female...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2022-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |