Coffin-Siris syndrome is a SWI/SNF complex disorder-Reference-Cited by-同舟云学术

Coffin-Siris syndrome is a SWI/SNF complex disorder

Published:2013-07-23 Issue:6 Volume:85 Page:548-554
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Tsurusaki Y.¹,Okamoto N.²,Ohashi H.³,Mizuno S.⁴,Matsumoto N.⁵,Makita Y.⁶,Fukuda M.⁷,Isidor B.⁸,Perrier J.⁹,Aggarwal S.¹⁰,Dalal A.B.¹¹,Al-Kindy A.¹²,Liebelt J.¹³,Mowat D.¹⁴,Nakashima M.¹,Saitsu H.¹,Miyake N.¹,Matsumoto N.¹

Affiliation:

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

2. Division of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

3. Division of Medical Genetics; Saitama Children's Medical Center; Saitama Japan

4. Department of Pediatrics, Central Hospital; Aichi Human Service Center; Kasugai Japan

5. Department of Pediatrics; Asahikawa Medical University; Asahikawa Medical University; Asahikawa Japan

6. Education Center; Asahikawa Medical University; Asahikawa Japan

7. Department of Pediatrics; St. Marianna University School of Medicine; Kawasaki Japan

8. CHU Nantes; Service de Génétique Médicale; Nantes France

9. CHU Nantes; Service de Pédiatrie; Nantes France

10. Department of Medical Genetics; Nizam's Institute of Medical Sciences; Hyderabad India

11. Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

12. Department of Genetics; Sultan Qaboos University Hospital; Muscat Oman

13. South Australian Clinical Genetics Service; SA Pathology at Women's and Children's Hospital; North Adelaide Australia

14. Department of Medical Genetics, Sydney Children's Hospital and the School of Women's and Children's Health; University of New South Wales; Sydney Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Mental retardation with absent fifth fingernail and terminal phalanx;Coffin;Am J Dis Child,1970

2. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome;Tsurusaki;Nat Genet,2012

3. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome;Van Houdt;Nat Genet,2012

4. In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome;Wolff;Mol Syndromol,2012

5. SWI/SNF gene variants and glioma risk and outcome;Amankwah;Cancer Epidemiol,2013

Cited by 118 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review;Cureus;2024-08-20

2. The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation;Human Genetics;2024-07-19

3. First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review;The Clinical Neuropsychologist;2024-07-04

4. ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum;Cell Stem Cell;2024-06

5. Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature;European Journal of Medical Genetics;2024-06