A de novo variant in OTX2 in a lamb with otocephaly

BACKGROUND: Otocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in man are associated with variants of the PRRX1 and OTX2 genes. CASE PRESENTATION: A stillborn male lamb of the Istrian...

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Detalles Bibliográficos
Autores principales: Paris, Julia Maria, Letko, Anna, Häfliger, Irene Monika, Švara, Tanja, Gombač, Mitja, Klinc, Primož, Škibin, Andrej, Pogorevc, Estera, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977343/
https://www.ncbi.nlm.nih.gov/pubmed/31969185
http://dx.doi.org/10.1186/s13028-020-0503-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977343/
https://www.ncbi.nlm.nih.gov/pubmed/31969185
http://dx.doi.org/10.1186/s13028-020-0503-z

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