Title: A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.
Authors: Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL
Journal: Hum Mutat
Published: 2015-08-10
Volume: 36
Pages: 753-7