A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.

Ghorashi, Tahereh; Darvish, Hossein; Bakhtiari, Somayeh; Tafakhori, Abbas; Kruer, Michael C; Mozdarani, Hossein

Ghorashi, Tahereh; Darvish, Hossein; Bakhtiari, Somayeh; Tafakhori, Abbas; Kruer, Michael C; Mozdarani, Hossein.

Afiliación

Ghorashi T; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Tafakhori A; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.
Kruer MC; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Mozdarani H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. mkruer@phoenixchildrens.com.

Neurogenetics ; 24(4): 311-316, 2023 Oct.

Article en En | MEDLINE | ID: mdl-37668766

Asunto(s)

Discapacidad Intelectual; Trastornos del Neurodesarrollo; Humanos; Discapacidad Intelectual/genética; Discapacidad Intelectual/diagnóstico; Linaje; Trastornos del Neurodesarrollo/genética; Mutación; Proteínas de la Membrana/genética

Palabras clave

Intellectual disability; TMEM147; Variant; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Estados Unidos

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