De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

Abstract Background Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genome sequencing on an Illumina NextSeq500 were perfor...

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Bibliographic Details
Main Authors: Marina Braun, Annika Lehmbecker, Deborah Eikelberg, Maren Hellige, Andreas Beineke, Julia Metzger, Ottmar Distl
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Genomics
Subjects:
Cattle
Stillborn: arhinencephaly
Aprosencephaly
de novo mutation
ZIC2
Online Access:https://doi.org/10.1186/s12864-020-07350-y

Internet

https://doi.org/10.1186/s12864-020-07350-y

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