Further delineation of <i>GEMIN4</i> related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome-Reference-Cited by-同舟云学术

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome

Published:2022-07-21 Issue:10 Volume:188 Page:2932-2940
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Altassan Ruqaiah¹²^ORCID,Qudair Ahmad¹,Alokaili Riyadh³,Alhasan Khalid⁴⁵,Faqeih Eissa A.⁶,Alhashem Amal⁷,Alowain Muhammed¹²,Alsayed Moeanaldeen¹²,Rahbeeni Zuhair¹,Albadi Lama⁸,Alkuraya Fowzan S.⁸^ORCID,Anderson Eric N.⁹,Rajan Deepa⁹,Pandey Udai Bhan⁹

Affiliation:

1. Department of Medical Genetics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia

3. Department of Radiology King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

4. Department of Pediatrics College of Medicine, King Saud University Riyadh Saudi Arabia

5. Department of Pediatrics King Saud University Medical City Riyadh Saudi Arabia

6. Medical Genetics Section, King Fahad Medical City Children's Hospital Riyadh Kingdom of Saudi Arabia

7. Division of Genetics, Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia

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

9. Department of Pediatrics, Children's Hospital of Pittsburgh University of Pittsburgh Medical Center Pittsburgh Pennsylvania USA

Funder

King Fahad Medical City

Commonwealth Neurotrauma Initiative Trust Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62894

Reference20 articles.

1. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

2. A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

3. Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models

4. The Non-amyloidal Component Region of α-Synuclein Is Important for α-Synuclein Transport Within Axons

5. Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology