Work

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Year: 2014

Type: article

Study design: Case Report

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2014.71

Authors: Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary-Claire King, Naomichi Matsumoto

Institutions: Yokohama City University, Nishi Niigata Chuo National Hospital, University of Washington, Yamagata University, National Center of Neurology and Psychiatry, National Institute of Neuroscience, Saitama Medical University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Takeda Science Foundation, Japan Society for the Promotion of Science

Awards: Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseases, Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis, G560500702, G7069018598

OpenAlex ID: W2055397543

FWCI: 2.697

Cites: 11

Cited by: 57

Related to: 10