A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with dis...
Main Authors: | Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2024-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2024/5906936 |
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