Clinical Evaluation Followed by Molecular Diagnosis in a Multiplex Pedigree of Angelman Syndrome: A Case Report
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay or intellectual disability caused by either disruption of the maternal UBE3A gene or deletion in the maternal 15q11-q13. Diagnosis of AS in two siblings with normal four-generation history was confirm...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Tehran
2022-12-01
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| Series: | Journal of Sciences, Islamic Republic of Iran |
| Subjects: | |
| Online Access: | https://jsciences.ut.ac.ir/article_91383_0f16821d11dc13e5babd2674cb43442d.pdf |
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