Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy

Here we describe three patients with neurodevelopmental disorders characterized by mild‐to‐moderate intellectual disability, mildly dysmorphic features, and hirsutism, all of which carry de novo sequence variants in the WW domain‐containing adaptor of the coiled‐coil (WAC) gene; two of these—c.167de...

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