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...

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Detalles Bibliográficos
Autores principales: Nonkulovski, D, Sofijanova, A, Spasovska, T, Gorjan, Milanovski, Muaremoska-Kanzoska, Lj, Arsov, T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
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

Internet

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

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