A novel recurrent LIS1 splice site mutation in classic lissencephaly

作者:Philbert Marion; Maillard Camille; Cavallin Mara; Goldenberg Alice; Masson Cecile; Boddaert Nathalie; El Morjani Adrienne; Steffann Julie; Chelly Jamel; Gerard Xavier; Bahi Buisson Nadia*
来源:American Journal of Medical Genetics, Part A, 2017, 173(2): 561-564.
DOI:10.1002/ajmg.a.38041