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A Novel Pathogenic TUBA1A Variant in a Croatian Infant is Linked to a Severe Tubulinopathy with Walker–Warburg-like Features

Akzam Saidin,Anet Papazovska Cherepnalkovski,Zeeshan Shaukat,Todor Arsov,Rashid Hussain,Ben J. Roberts,Marija Bucat, Klara Cogelja,Michael G. Ricos,Leanne M. Dibbens

GENES（2024）

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Key words
tubulinopathy,lissencephaly,hypotonia,TUBA1A,generalized myoclonus,hypoplastic genitalia,macrocephaly
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