Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230831/ https://www.ncbi.nlm.nih.gov/pubmed/37265970 http://dx.doi.org/10.2478/bjmg-2022-0017 |