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Article

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

American journal of medical genetics. Part A - 1 Sept 2020

Gomez Diego A, Bird Lynne M, Fleischer Nicole, Abdul-Rahman Omar A

Abstract excerpt

Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally-inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differentiating the etiology require molecular testing, which is sometimes difficult to obtain. Recently, computer-based facial analysis systems have been used to assist in...

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PMID: 32524756
DOI: 10.1002/ajmg.a.61720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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