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Article

A de novo variant in OTX2 in a lamb with otocephaly.

Acta veterinaria Scandinavica - 22 Jan 2020

Paris Julia Maria, Letko Anna, Häfliger Irene Monika, Švara Tanja, Gombač Mitja, Klinc Primož, Škibin Andrej, Pogorevc Estera, Drögemüller Cord

Abstract excerpt

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 Istrian Pramenka sheep breed showed several congenital craniofacial anomalies including microstomia, agnathia, aglossia, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 31969185
DOI: 10.1186/s13028-020-0503-z
PMCID: PMC6977343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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