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

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 performed to c...

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Detalles Bibliográficos
Autores principales: Braun, Marina, Lehmbecker, Annika, Eikelberg, Deborah, Hellige, Maren, Beineke, Andreas, Metzger, Julia, Distl, Ottmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7777292/
https://www.ncbi.nlm.nih.gov/pubmed/33388042
http://dx.doi.org/10.1186/s12864-020-07350-y