Novel SUZ12 mutations in Weaver‐like syndrome-Reference-Cited by-同舟云学术

Novel SUZ12 mutations in Weaver‐like syndrome

Published:2018-08-06 Issue:5 Volume:94 Page:461-466
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Imagawa Eri¹^ORCID,Albuquerque Edoarda V.A.²,Isidor Bertrand³,Mitsuhashi Satomi¹,Mizuguchi Takeshi¹,Miyatake Satoko¹,Takata Atsushi¹,Miyake Noriko¹^ORCID,Boguszewski Margaret C.S.⁴,Boguszewski César L.⁵,Lerario Antonio M.²⁶,Funari Mariana A.⁷^ORCID,Jorge Alexander A.L.²,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

2. Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina Universidade de São Paulo (USP) São Paulo Brazil

3. Service de Génétique Médicale Hôpital Hôtel‐Dieu Nantes France

4. Department of Pediatrics Federal University of Paraná Curitiba Brazil

5. Department of Internal Medicine, Endocrine Division (SEMPR) Federal University of Paraná Curitiba Brazil

6. Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan Ann Arbor Michigan

7. Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina Universidade de São Paulo São Paulo Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Education, Culture, Sports, Science and Technology

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Takeda Science Foundation

Ministry of Health, Labour and Welfare

Japan Science and Technology Agency

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13415

Reference22 articles.

1. Criteria for the diagnosis of Weaver syndrome;Khosravi M;Proc Greenwood Genet Ctr,2011

2. Weaver syndrome and defective cortical development: A rare association

3. EED-associated overgrowth in a second male patient

4. A novel mutation in EED associated with overgrowth

5. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

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