Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

Author:

Carson Robert P.12,Bird Lynne3,Childers Anna K.4,Wheeler Ferrin5,Duis Jessica4ORCID

Affiliation:

1. Divisions of Child Neurology and Epilepsy, Department of Pediatrics Vanderbilt Brain Institute, Vanderbilt University Medical Center Nashville Tennessee

2. Department of Pharmacology Vanderbilt Brain Institute, Vanderbilt University Medical Center Nashville Tennessee

3. Division of Genetics/Dysmorphology, Department of Pediatrics Rady Children’s Hospital, University of California San Diego San Diego California

4. Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee

5. Department of Pathology, Microbiology, and Immunology Vanderbilt University Medical Center Nashville Tennessee

Funder

National Institutes of Health

Angelman Syndrome Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference33 articles.

1. Patients with mosaic methylation patterns of the Prader‐Willi/Angelman Syndrome critical region exhibit AS‐like phenotypes with some PWS features;Aypar U.;Molecular Cytogenetics,2016

2. Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

3. Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes

4. Reducing selection bias in case‐control studies from rare disease registries;Cole J. A.;Orphanet Journal of Rare Diseases,2011

5. Mice Heterozygous for Atp10c, a Putative Amphipath, Represent a Novel Model of Obesity and Type 2 Diabetes

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