Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients
IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant fee...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2024-09-01T00:00:00Z.
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