<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp> <i>WDR45B</i> </scp> pathogenic variants: Further delineation of the phenotype and genotype-Reference-Cited by-同舟云学术

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

Published:2022-04-12 Issue:5-6 Volume:101 Page:530-540
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Almannai Mohammed¹,Marafi Dana²³,Abdel‐Salam Ghada M. H.⁴,Zaki Maha S.⁴⁵^ORCID,Duan Ruizhi²,Calame Daniel²⁶⁷,Herman Isabella²⁶⁷,Levesque Felix⁸,Elbendary Hasnaa M.⁴,Hegazy Ibrahim⁴,Chung Wendy K.⁹¹⁰,Kavus Haluk⁹,Saeidi Kolsoum¹¹,Maroofian Reza¹²,AlHashim Aqeela¹³,Al‐Otaibi Ali¹³,Al Madhi Asma¹³,Abou Al‐Seood Hager M.¹⁴,Alasmari Ali¹⁴,Houlden Henry¹²,Gleeson Joseph G.¹⁵,Hunter Jill V.¹⁶¹⁷,Posey Jennifer E.²,Lupski James R.²⁷¹⁸¹⁹,El‐Hattab Ayman W.²⁰²¹^ORCID

Affiliation:

1. Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City Ministry of National Guard Health Affairs (MNG‐HA) Riyadh Saudi Arabia

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

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

4. Clinical Genetics Department Human Genetics and Genome Research Institute National Research Centre Cairo Egypt

5. Genetics Department Armed Forces College of Medicine (AFCM) Cairo Egypt

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

7. Texas Children's Hospital Houston Texas USA

8. Division of Medical Genetics and Metabolic, Department of Paediatrics Jim Pattison Children's Hospital, University of Saskatchewan Saskatoon Canada

9. Department of Pediatrics Columbia University Irving Medical Center New York New York USA

10. Departments of Medicine Columbia University Irving Medical Center New York New York USA

11. Neuroscience Research Center Institute of Neuropharmacology, Kerman University of Medical Sciences Kerman Iran

12. UCL Queen Square Institute of Neurology University College London London UK

13. Department of Pediatric Neurology National Neuroscience Institute, King Fahad Medical City Riyadh Saudi Arabia

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

15. Rady Children's Institute for Genomic Medicine Howard Hughes Medical Institute, University of California San Diego California USA

16. E.B. Singleton Department of Pediatric Radiology Texas Children's Hospital Houston Texas USA

17. Department of Radiology Baylor College of Medicine Houston Texas USA

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

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

20. Department of Clinical Sciences College of Medicine, University of Sharjah Sharjah United Arab Emirates

21. Genetics Clinics University Hospital Sharjah Sharjah United Arab Emirates

Funder

National Human Genome Research Institute

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14132

Reference34 articles.

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