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Article

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

BMC genetics - 2 Aug 2017

Agerholm Jørgen S, McEvoy Fintan J, Heegaard Steffen, Charlier Carole, Jagannathan Vidhya, Drögemüller Cord

Abstract excerpt

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 mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

Open in PubMed Open full text

Identifiers

PMID: 28768473
DOI: 10.1186/s12863-017-0541-3
PMCID: PMC5541750

Genes

FGFR2
DMBT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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