Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American journal of medical genetics. Part A, Feb 2025 | e64007

DOI: 10.1002/ajmg.a.64007

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

Galli, Jessica ; Loi, Erika ; Zanardini, Federica ; Baldoni, Giovanna ; Novara, Francesca ; Panigada, Serena ; Ciccone, Roberto ; Cutrì, Maria Rosa ; Bertoletti, Alice ; Pinelli, Lorenzo ; Fazzi, Elisa

Genes

Oligo Pools

NGS Target Enrichment Solutions

Variant Libraries

Synthetic Controls

Antibody Discovery

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

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