Novel <i>RETREG1</i> ( <scp> <i>FAM134B)</i> </scp> founder allele is linked to <scp>HSAN2B</scp> and renal disease in a Turkish family-Reference-Cited by-同舟云学术

Novel RETREG1 ( FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

Published:2022-03-24 Issue:7 Volume:188 Page:2153-2161
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:

Taşdelen Elifcan¹²^ORCID,Calame Daniel G.³⁴⁵^ORCID,Akay Gulsen⁵⁶,Mitani Tadahiro⁵,Fatih Jawid M.⁵,Herman Isabella³⁴⁵⁷^ORCID,Du Haowei⁵,Coban‐Akdemir Zeynep⁵⁸,Marafi Dana⁵⁹,Jhangiani Shalini N.¹⁰,Posey Jennifer E.⁵^ORCID,Gibbs Richard A.⁵¹⁰^ORCID,Altıparmak Taylan¹¹,Kutlay Nüket Yürür¹,Lupski James R.⁴⁵¹⁰¹²^ORCID,Pehlivan Davut³⁴⁵^ORCID

Affiliation:

1. Department of Medical Genetics Sanliurfa Education and Research Hospital Şanlıurfa Turkey

2. Department of Medical Genetics Ankara University School of Medicine Ankara Turkey

3. Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston Texas USA

4. Texas Children's Hospital Houston Texas USA

5. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

6. Department of Pediatrics University of Utah Salt Lake Utah USA

7. Boys Town National Research Hospital Boys Town Nebraska USA

8. Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center The University of Texas Health Science Center at Houston Houston Texas USA

9. Department of Pediatrics, Faculty of Medicine Kuwait University Safat Kuwait

10. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

11. Department of Neurology Cankırı State Hospital Cankırı Turkey

12. Department of Pediatrics Baylor College of Medicine Houston Texas USA

Funder

Ankara Universitesi

International Rett Syndrome Foundation

Muscular Dystrophy Association

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

National Institutes of Health