Atypical presentation of Angelman syndrome with intact expressive language due to <scp>low‐level</scp> mosaicism-Reference-Cited by-同舟云学术

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Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

Published:2022-08-04 Issue:10 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Punatar Ruchi¹²^ORCID,Egense Alena²³,Mao Rong⁴⁵,Procter Melinda⁴,Bosworth Michelle⁴,Quigley Denise I.⁴,Angkustsiri Kathleen¹²,Shankar Suma P.²³^ORCID

Affiliation:

1. Division of Developmental Behavioral Pediatrics, Department of Pediatrics University of California Davis Sacramento California USA

2. MIND Institute University of California Davis Sacramento California USA

3. Division of Genomic Medicine, Department of Pediatrics University of California Davis Sacramento California USA

4. ARUP Laboratories Salt Lake City Utah USA

5. Department of Pathology University of Utah Salt Lake City Utah USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2018

Reference15 articles.

1. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

2. Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect

3. Prader-Willi syndrome and Angelman syndrome

4. Angelman syndrome — insights into a rare neurogenetic disorder

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

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