Patrick S. Bedwell
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View article: A recessive <i>CLN3</i> variant is responsible for delayed-onset retinal degeneration in Hereford cattle
A recessive <i>CLN3</i> variant is responsible for delayed-onset retinal degeneration in Hereford cattle Open
Thirteen American Hereford cattle were reported blind with presumed onset when ~12-mo-old. All blind cattle shared a common ancestor through both the maternal and paternal pedigrees, suggesting a recessive genetic origin. Given the pedigre…
View article: 17 A De novo Recessive Mutation Causative of Mandibulofacial Dysostosis in Hereford Cattle
17 A De novo Recessive Mutation Causative of Mandibulofacial Dysostosis in Hereford Cattle Open
In spring 2020, six Hereford calves presented with congenital craniofacial abnormalities attributed to a condition we termed mandibulofacial dysostosis (MD). Pedigree analysis revealed a single common ancestor shared by the sire and dam of…
View article: Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle
Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle Open
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower …