Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum-Reference-Cited by-同舟云学术

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

Published:2015-07-20 Issue:4 Volume:89 Page:434-441
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Haghighi A.¹²³,Kavehmanesh Z.⁴,Haghighi A.⁵,Salehzadeh F.⁶,Santos-Simarro F.⁷⁸,Van Maldergem L.⁹,Cimbalistiene L.¹⁰,Collins F.¹¹,Chopra M.¹²,Al-Sinani S.¹³,Dastmalchian S.¹⁴,de Silva D.C.¹⁵,Bakhti H.¹⁶,Garg A.¹⁷,Hilbert P.¹⁸

Affiliation:

1. Department of Genetics; Harvard Medical School; Boston MA USA

2. Department of Medicine and the Howard Hughes Medical Institute; Brigham and Women's Hospital; Boston MA USA

3. Wellcome Trust Centre for Human Genetics; University of Oxford; Oxford UK

4. Research Center for Gastroenterology and Liver Diseases; Baqiyatallah University of Medical Sciences; Tehran Iran

5. Toronto General Hospital; University of Toronto; Toronto Canada

6. Pediatric Department, Bouali Hospital; Ardabil University of Medical Sciences; Ardabil Iran

7. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras; ISCIII; Madrid Spain

8. Clinical Genetics Unit, INGEMM, IdiPAZ; Hospital Universitario La Paz, UAM; Madrid Spain

9. Centre de génétique humaine; Université de FRanche-Comté; Besançon France

10. Department of Human and Medical Genetics; Vilnius University; Vilnius Lithuania

11. Department of Clinical Genetics; Children's Hospital at Westmead; Sydney Australia

12. Department of Medical Genomics; Royal Prince Alfred Hospital, Camperdown; Sydney Australia

13. Gastroenterology Unit, Department of Child Health; Sultan Qaboos University Hospital; Muscat Oman

14. Case Medical Center; Case Western Reserve University; Cleveland OH USA

15. Department of Physiology, Faculty of Medicine; University of Kelaniya; Ragama Sri Lanka

16. Pathology Department; Takht-e Jamshid Hospital; Karaj Iran

17. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition; UT Southwestern Medical Center; Dallas TX USA

18. Institute of Pathology and Genetics; Gosselies Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference43 articles.

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2. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?;Seip;Acta Paediatr,1959

3. Generalized lipodystrophy, congenital and acquired (lipoatrophy);Seip;Acta Paediatr Suppl,1996

4. Acquired and inherited lipodystrophies;Garg;N Engl J Med,2004

5. Lipodystrophies;Garg;Am J Med,2000

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