A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures.

Algahtani, Hussein; Shirah, Bader; Daghistani, Mustafa; Al-Qahtani, Mohammad H; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran

Algahtani, Hussein; Shirah, Bader; Daghistani, Mustafa; Al-Qahtani, Mohammad H; Abdulkareem, Angham Abdulrahman; Naseer, Muhammad Imran.

Afiliación

Algahtani H; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Shirah B; King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Daghistani M; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Al-Qahtani MH; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Abdulkareem AA; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Naseer MI; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.

Neuropediatrics ; 52(2): 150-152, 2021 04.

Article en En | MEDLINE | ID: mdl-33065750

Asunto(s)

Discapacidades del Desarrollo/genética; Epilepsia Refractaria/genética; Discapacidad Intelectual/genética; Ubiquitina-Proteína Ligasas/genética; Adolescente; Consanguinidad; Femenino; Humanos; Mutación; Linaje

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Ubiquitina-Proteína Ligasas / Epilepsia Refractaria / Discapacidad Intelectual Límite: Adolescent / Female / Humans Idioma: En Revista: Neuropediatrics Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google