A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

Abstract Background Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline muta...

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Bibliographic Details
Main Authors: Jørgen S. Agerholm, Fintan J. McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Genetics
Subjects:
Bovine
Congenital
Malformation
Rare disease
Hereditary
Fibroblast growth factor receptor 2
Online Access:http://link.springer.com/article/10.1186/s12863-017-0541-3

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