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    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
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Home > Our Research Activities > List Of Publications > Defining the phenotypical spectrum associated with variants in TUBB2A

Defining the phenotypical spectrum associated with variants in TUBB2A

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A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome  
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
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