Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations-Reference-Cited by-同舟云学术

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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Published:2018-04-27 Issue:1 Volume:9 Page:
ISSN:2040-2392
Container-title:Molecular Autism
language:en
Short-container-title:Molecular Autism

Author:

De Rubeis Silvia^ORCID,Siper Paige M.^ORCID,Durkin Allison^ORCID,Weissman Jordana^ORCID,Muratet François,Halpern Danielle^ORCID,Trelles Maria del Pilar^ORCID,Frank Yitzchak^ORCID,Lozano Reymundo^ORCID,Wang A. Ting^ORCID,Holder J. Lloyd^ORCID,Betancur Catalina^ORCID,Buxbaum Joseph D.^ORCID,Kolevzon Alexander^ORCID

Funder

Beatrice and Samuel A. Seaver Foundation

Phelan-McDermid Syndrome Foundation

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

Robbins Foundation

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Developmental Biology,Developmental Neuroscience,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13229-018-0205-9.pdf

Reference62 articles.

1. Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, et al. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6:39.

2. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4:18.

3. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, et al. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 2011;7:e1002173.

4. Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, et al. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet. 2014;133:847–59.

5. Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 2003;40:690–6.

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