Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference10 articles.
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3. Severe infantile-onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45;Carvill;Epilepsia,2018
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