A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic par...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Kurihara, Masanori, Ishiura, Hiroyuki, Bannai, Taro, Mitsui, Jun, Yoshimura, Jun, Morishita, Shinichi, Hayashi, Toshihiro, Shimizu, Jun, Toda, Tatsushi, Tsuji, Shoji
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7118386/
https://ncbi.nlm.nih.gov/pubmed/31813911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.3661-19
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