Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant
Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2022-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2022-0017 |