Molecular and clinical spectra of FBXL4 deficiency-Reference-Cited by-同舟云学术

Molecular and clinical spectra of FBXL4 deficiency

Published:2017-10-06 Issue:12 Volume:38 Page:1649-1659
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

El-Hattab Ayman W.¹^ORCID,Dai Hongzheng²,Almannai Mohammed²,Wang Julia³,Faqeih Eissa A.⁴,Al Asmari Ali⁴,Saleh Mohammed A. M.⁴,Elamin Mohammed A. O.⁴,Alfadhel Majid⁵⁶,Alkuraya Fowzan S.⁷⁸,Hashem Mais⁷,Aldosary Mazhor S.⁷,Almass Rawan⁷,Almutairi Faten B.⁷,Alsagob Maysoon⁷,Al-Owain Mohammed⁹,Al-Sharfa Shirin⁹,Al-Hassnan Zuhair N.⁹,Rahbeeni Zuhair⁹,Al-Muhaizea Mohammed A.⁸¹⁰^ORCID,Makhseed Nawal¹¹,Foskett Gretchen K.¹²,Stevenson David A.¹²,Gomez-Ospina Natalia¹²,Lee Chung¹²,Boles Richard G.¹³,Schrier Vergano Samantha A.¹⁴^ORCID,Wortmann Saskia B.¹⁵¹⁶¹⁷^ORCID,Sperl Wolfgang¹⁵,Opladen Thomas¹⁸,Hoffmann Georg F.¹⁸,Hempel Maja¹⁹,Prokisch Holger¹⁶¹⁷^ORCID,Alhaddad Bader¹⁶¹⁷^ORCID,Mayr Johannes A.²⁰^ORCID,Chan Wenyaw²¹,Kaya Namik⁷,Wong Lee-Jun C.²

Affiliation:

1. Division of Clinical Genetics and Metabolic Disorders, Pediatric Department; Tawam Hospital; Al-Ain United Arab Emirates

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

3. Medical Scientist Training Program and Program in Developmental Biology; Baylor College of Medicine; Houston Texas

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

5. King Abdullah International Medical Research Centre; King Saud bin Abdulaziz University for Health Sciences; Riyadh Saudi Arabia

6. Division of Genetics, Department of Pediatrics; King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA); Riyadh Saudi Arabia

7. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

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

9. Department of Medical Genetics; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

10. Department of Neurosciences; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

11. Department of Pediatrics, Al-Jahra Hospital; Ministry of Health; Al-Jahra City Kuwait

12. Department of Pediatrics; Stanford University School of Medicine; Stanford California

13. Lineagen; Salt Lake City Utah

14. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters; Norfolk Virginia

15. Department of Pediatrics, Salzburger Landeskliniken; Paracelsus Medical University; Salzburg Austria

16. Institute of Human Genetics; Technische Universität München; Munich Germany

17. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

18. Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine; University Hospital; Heidelberg Germany

19. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

20. Department of Pediatrics; Paracelsus Medical University Salzburg; Salzburg Austria

21. Department of Biostatistics, School of Public Health; University of Texas-Health Science Center at Houston; Houston Texas

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

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4. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13;Barøy;European Journal of Medical Genetics,2016

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