Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental disorder with microcephaly and malformations of cortical develo...
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Main Authors: | , , , , , , , , , , , , , |
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Format: | Book |
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Frontiers Media S.A.,
2023-12-01T00:00:00Z.
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A1234.567 |
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