A de novo variant in OTX2 in a lamb with otocephaly

A de novo variant in OTX2 in a lamb with otocephaly

Abstract 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 I...

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Bibliographic Details
Main Authors: Julia Maria Paris, Anna Letko, Irene Monika Häfliger, Tanja Švara, Mitja Gombač, Primož Klinc, Andrej Škibin, Estera Pogorevc, Cord Drögemüller
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Acta Veterinaria Scandinavica
Subjects:
Agnathia
Domestic animal
Microstomia
Precision medicine
Rare disease
Synotia
Online Access:https://doi.org/10.1186/s13028-020-0503-z

Internet

https://doi.org/10.1186/s13028-020-0503-z

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