De Novo Missense Variant in Bovine <i>WDR33</i> Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus
This study alerts veterinarians and breeders to the potential occurrence of dominant de novo mutations in cattle and emphasizes that, in herds using a natural service sire, the consequences of an asymptomatic germline mosaic can be important.
Authors
- Cord Drögemüller (ORCID: https://orcid.org/0000-0001-9773-522X)
- Arcangelo Gentile (ORCID: https://orcid.org/0000-0002-6091-8978)
- Irene M. Häfliger (ORCID: https://orcid.org/0000-0002-5648-963X)
- Joana G. P. Jacinto (ORCID: https://orcid.org/0000-0002-6438-7975)
- Marilena Bolcato (ORCID: https://orcid.org/0000-0002-0605-3344)
- Giovanni Romito (ORCID: https://orcid.org/0000-0003-3927-1601)
Institutions
- University of Bern (CH)
- University of Bologna (IT)
Publication Details
- Journal
- Journal of Veterinary Internal Medicine
- Published
- 2025-06-17
- DOI
- https://doi.org/10.1111/jvim.70144
- Primary Topic
- Congenital Anomalies and Fetal Surgery
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Bern