The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
Author:
Publisher
Elsevier BV
Subject
General Medicine,Surgery
Reference22 articles.
1. Angelman syndrome;Margolis;Neurother J Am Soc Exp Neurother,2015
2. An overview of health issues and development in a large clinical cohort of children with Angelman syndrome;Bindels-de Heus;Am. J. Med. Genet.,2020
3. Unmet clinical needs and burden in Angelman syndrome: a review of the literature;Wheeler;Orphanet J. Rare Dis.,2017
4. Genotype–phenotype correlations in Angelman syndrome;Yang;Genes,2021
5. From UBE3A to Angelman syndrome: a substrate perspective;Sell;Front. Neurosci.,2015
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study;Orphanet Journal of Rare Diseases;2024-08-22
2. Angelman syndrome in Poland: current diagnosis and therapy status – the caregiver perspective – a questionnaire study;2024-07-03
3. Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing;PLOS ONE;2023-10-25
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