Rubinstein–Taybi syndrome in diverse populations-Reference-Cited by-同舟云学术

Rubinstein–Taybi syndrome in diverse populations

Published:2020-09-27 Issue:12 Volume:182 Page:2939-2950
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Tekendo‐Ngongang Cedrik¹,Owosela Babajide¹,Fleischer Nicole²,Addissie Yonit A.¹,Malonga Bryan¹,Badoe Ebenezer³,Gupta Neerja⁴,Moresco Angélica⁵,Huckstadt Victoria⁵,Ashaat Engy A.⁶,Hussen Dalia Farouk⁷,Luk Ho‐Ming⁸^ORCID,Lo Ivan F. M.⁸,Hon‐Yin Chung Brian⁹^ORCID,Fung Jasmine L. F.⁹,Moretti‐Ferreira Danilo¹⁰,Batista Letícia Cassimiro¹⁰,Lotz‐Esquivel Stephanie¹¹,Saborio‐Rocafort Manuel¹²,Badilla‐Porras Ramses¹²,Penon Portmann Monica¹²¹³^ORCID,Jones Kelly L.¹⁴^ORCID,Abdul‐Rahman Omar A.¹⁵^ORCID,Uwineza Annette¹⁶,Prijoles Eloise J.¹⁷,Ifeorah Ifeanyi Kanayo¹⁸,Llamos Paneque Arianne¹⁹,Sirisena Nirmala D.²⁰,Dowsett Leah²¹^ORCID,Lee Sansan²¹,Cappuccio Gerarda²²²³^ORCID,Kitchin Carolyn Sian²⁴,Diaz‐Kuan Alicia²⁵,Thong Meow‐Keong²⁶,Obregon María Gabriela⁵,Mutesa Leon¹⁶,Dissanayake Vajira H. W.²⁰,El Ruby Mona O.⁶,Brunetti‐Pierri Nicola²²²³^ORCID,Ekure Ekanem Nsikak²⁷,Stevenson Roger E.¹⁷^ORCID,Muenke Maximilian¹,Kruszka Paul¹^ORCID

Affiliation:

1. Medical Genetics Branch National Human Genome Research Institute, The National Institutes of Health Bethesda Maryland USA

2. FDNA Inc. Boston Massachusetts USA

3. Department of Child Health, School of Medicine and Dentistry College of Health Sciences Accra Ghana

4. Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India

5. Servicio de Genética, Hospital de Pediatría Garrahan Buenos Aires Argentina

6. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

7. Cytogenetic Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

8. Department of Health Clinical Genetic Service, Hong Kong Special Administrative Region Hong Kong China

9. Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine The University of Hong Kong, Hong Kong Special Administrative Region Hong Kong China

10. Department of Genetics Institute of Biosciences, Sao Paulo State University‐UNESP Botucatu São Paulo Brazil

11. Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS) San José Costa Rica

12. Medical Genetics and Metabolism Department National Children's Hospital "Dr. Carlos Sáenz Herrera" (CCSS) San José Costa Rica

13. Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics University of California San Francisco San Francisco California USA

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

15. Munroe‐Meyer institute for Genetics and Rehabilitation University of Nebraska Medical Center Omaha Nebraska USA

16. Centre for Human Genetics School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda Kigali Rwanda

17. Greenwood Genetic Center Greenwood South Carolina USA

18. Nigerian Air Force Hospital, Nigerian Air Force Abuja Nigeria

19. Medical Genetics Service Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry Quito Ecuador

20. Human Genetics Unit, Faculty of Medicine University of Colombo Colombo Sri Lanka

21. Kapi'olani Medical Center and University of Hawai'i Honolulu Hawaii USA

22. Department of Translational Medicine Section of Pediatrics, Federico II University Naples Italy

23. Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli Italy

24. Division of Human Genetics, Faculty of Health Sciences University of Cape Town Cape Town South Africa

25. Instituto de Medicina Genética Santiago de Surco Lima Peru

26. Department of Paediatrics, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia

27. Department of Paediatrics College of Medicine, University of Lagos Lagos Nigeria

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61888

Reference73 articles.

1. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association

2. A 15-Year-Old Boy with Rubinstein-Taybi Syndrome Associated with Severe Congenital Malalignment of the Toenails

3. Rubinstein‐Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report;Balci S.;Turkish Journal of Pediatrics,2008

4. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein‐Taybi syndrome;Bartsch O.;American Journal of Medical Genetics, Part A,2010

5. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

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