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New aspects of ZIC2-associated Holoprosencephaly

Barratt, Kristen

Description

Holoprosencephaly (HPE) occurs due to incomplete division of the developing forebrain along the embryonic midline, resulting in a failure to form two distinct cerebral hemispheres. Affecting 1/250 human conceptuses, HPE is a leading cause of pre- and post-natal morbidity and mortality. Currently, pathogenic mutations in the coding region of fifteen genes have been implicated in both classic and middle interhemispheric variants of HPE. Mutation of ZIC2 accounts...[Show more]

CollectionsOpen Access Theses
Date published: 2018
Type: Thesis (PhD)
URI: http://hdl.handle.net/1885/143955
DOI: 10.25911/5d690796cbca5

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