A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Philbert M,Maillard C,Cavallin M,Goldenberg A,Masson C,Boddaert N,El Morjani A,Steffann J,Chelly J,Gerard X,Bahi-Buisson N

Source :

Am J Med Genet A

2016 Nov 27

Pmid / DOI:

27891766

Abstract

KEYWORDSLis1, lissencephaly, splice site mutation

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