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A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
Almatrafi, Ahmad; Umair, Muhammad; Eldardear, Amr; Al-Luqmani, Majid; Hashmi, Jamil A; Albalawi, Alia M; Alfadhel, Majid; Ramzan, Khushnooda; Basit, Sulman.
Affiliation
  • Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
  • Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Eldardear A; College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
  • Al-Luqmani M; College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
  • Hashmi JA; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
  • Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
  • Alfadhel M; Department of Biology, College of Science, King Abdulaziz University Jeddah, Jeddah, Saudi Arabia.
  • Ramzan K; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
  • Basit S; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia.
J Gene Med ; 22(8): e3196, 2020 08.
Article in En | MEDLINE | ID: mdl-32246862
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Full text: 1 Database: MEDLINE Main subject: Optic Atrophy / Homeodomain Proteins / Mutation, Missense / Spinocerebellar Ataxias / Intellectual Disability / Muscle Spasticity Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Gene Med Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Saudi Arabia
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Full text: 1 Database: MEDLINE Main subject: Optic Atrophy / Homeodomain Proteins / Mutation, Missense / Spinocerebellar Ataxias / Intellectual Disability / Muscle Spasticity Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: J Gene Med Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Saudi Arabia