A novel pathogenic NFIX variant in a Malan syndrome patient...

A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding

Tabata, Kenshiro, Iida, Aritoshi, Takeshita, Eri, Nakagawa, Eiji, Sato, Noriko, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
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Volume:
412
Language:
english
Journal:
Journal of the Neurological Sciences
DOI:
10.1016/j.jns.2020.116758
Date:
May, 2020
File:
PDF, 683 KB
english, 2020
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