Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature-Reference-Cited by-同舟云学术

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

Published:2017-11-21 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Aguilera Cinthia,Viñas-Jornet Marina,Baena Neus,Gabau Elisabeth,Fernández Concepción,Capdevila Nuria,Cirkovic Sanja,Sarajlija Adrijan,Miskovic Marijana,Radivojevic Danijela,Ruiz Anna^ORCID,Guitart Miriam

Funder

Asociación Española de Síndrome de Angelman

Fundació Parc Taulí- Institut d’Investigació i Innovació Parc Taulí I3PT

Instituto de Salud Carlos III

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0500-x.pdf

Reference24 articles.

1. Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Angelman Syndrome. Curr Probl Pediatr. 1995;25(7):216–31.

2. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Midden EM, et al. Angelman Syndrome. Consensus for diagnostic criteria. Am J Med Genet. 1995;56(2):237–8.

3. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140A(5):413–8.

4. Buiting K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C: Semin Med Genet. 2010;154C(3):365–76.

5. Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Medical Genetics. 2010;11(1)

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