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Clinical and Genetic Delineation of Autosomal Recessive and Dominant ACTL6B-related Developmental Brain Disorders.

Elisa Cali, Tania Quirin,Clarissa Rocca,Stephanie Efthymiou,Antonella Riva,Dana Marafi, Maha S. Zaki,Mohnish Suri, Roberto Dominguez,Hasnaa M. Elbendary,Shahryar Alavi,Mohamed S. Abdel-Hamid,Heba Morsy,Frederic Tran Mau-Them,Mathilde Nizon,Pavel Tesner,Lukáš Ryba,Faisal Zafar,Nuzhat Rana,Nebal W. Saadi

Genetics in Medicine（2024）

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关键词
ACTL6B,epileptic-dyskinetic encephalopathy,autism,BAFopathies,ribosomopathies
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