Genetics of ataxia telangiectasia in a highly consanguineous population-Reference-Cited by-同舟云学术

Genetics of ataxia telangiectasia in a highly consanguineous population

Published:2021-09-28 Issue:1 Volume:86 Page:34-44
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Al‐Muhaizea Mohammed A.¹,Aldeeb Hanouf²³⁴,Almass Rawan³⁵,Jaber Hadeel³⁴,Binhumaid Felwa³,Alquait Laila²³,Abukhalid Musaad¹,Aldhalaan Hesham¹,Alsagob Maysoon³⁶,Al‐Bakheet Albandary²³,Aldosary Mazhor²³,Alkofide Hadeel⁴,Alrasheed Maha M.⁴,Colak Dilek⁷^ORCID,Kaya Namik²³^ORCID

Affiliation:

1. Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh Kingdom of Saudi Arabia

2. Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Kingdom of Saudi Arabia

3. Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Kingdom of Saudi Arabia

4. College of Pharmacy King Saud University Riyadh Kingdom of Saudi Arabia

5. Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Kingdom of Saudi Arabia

6. King Abdulaziz City for Science and Technology Riyadh Kingdom of Saudi Arabia

7. Department of Biostatistics, Epidemiology and Scientific Computing King Faisal Specialist Hospital and Research Centre Riyadh Kingdom of Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12445

Reference28 articles.

1. ISCA2mutation causes infantile neurodegenerative mitochondrial disorder

2. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

3. A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

4. Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome

5. Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature;Frontiers in Pediatrics;2023-02-27

2. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families;Cells;2022-10-07

3. Diabetes-Associated Mutations in Proinsulin Provide a “Molecular Rheostat” of Nascent Foldability;Current Diabetes Reports;2022-02

4. A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts;Genes;2021-12-30