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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Catherine Rodger,Elisabetta Flex,Rachel J. Allison,Alba Sanchis-Juan,Marcia A. Hasenahuer,Serena Cecchetti,Courtney E. French,James R. Edgar,Giovanna Carpentieri,Andrea Ciolfi,Francesca Pantaleoni,Alessandro Bruselles,Roberta Onesimo,Giuseppe Zampino,Francesca Marcon,Ester Siniscalchi,Melissa Lees,Deepa Krishnakumar,Emma McCann, Dragana Yosifova,Joanna Jarvis,Michael C. Kruer,Warren Marks, Jonathan Campbell,Louise E. Allen,Stefano Gustincich,F. Lucy Raymond,Marco Tartaglia,Evan Reid

AMERICAN JOURNAL OF HUMAN GENETICS（2020）

Cited 44|Views88
Key words
endosomal sorting complex required for transport,microcephaly,endosomal sorting,mitosis,nuclear envelope,DNA damage,primary cilium,cerebellar hypoplasia,centrosome,CIMDAG
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