Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant

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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Bibliographic Details
Main Authors: Nonkulovski D, Sofijanova A, Spasovska T, Gorjan Milanovski, Muaremoska-Kanzoska Lj, Arsov T
Format: Article
Language:English
Published: Sciendo 2022-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
holoprosencephaly
hpe
zic2
forebrain anomaly
Online Access:https://doi.org/10.2478/bjmg-2022-0017

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