Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

Author:

Mertz Line Granild Bie1,Christensen Rikke2,Vogel Ida2,Hertz Jens Michael3,Nielsen Karen Brøndum4,Grønskov Karen4,Østergaard John R.1

Affiliation:

1. Department of Pediatrics, Center for Rare Diseases; Aarhus University Hospital; Aarhus Denmark

2. Department of Clinical Genetics; Aarhus University Hospital; Aarhus Denmark

3. Department of Clinical Genetics; Odense University Hospital; Odense Denmark

4. Medical Genetics Laboratory Center-Kennedy Center; Copenhagen University Hospital; Rigshospitalet Glostrup Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. The Danish National Hospital register. A valuable source of data for modern health scinces;Andersen;Dan Med Bull,1999

2. Angelman syndrome: Are the estimates too low;Buckley;Am J Med Genet,1998

3. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome;Butler;Am J Med Genet Part A,2008

4. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons;Chai;Am J Hum Genet,2003

5. Angelman syndrome;Clayton-Smith;J Med Genet,1992

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