Is it worth a CGH array? MBD5 haploinsufficiency and clinical variability in MBD5-associated neurodevelopmental disorder: a case report
Abstract Background MBD5 (methyl-CpG-binding domain protein 5) haploinsufficiency is a rare genetic disorder primarily characterized by intellectual disability, speech delay, and various physical and behavioral anomalies. This case is noteworthy due to the presentation of previously unreported sympt...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-03-01
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| Series: | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41983-025-00952-x |
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