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A de novo variant in OTX2 in a lamb with otocephaly
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...
Autores principales: | Paris, Julia Maria, Letko, Anna, Häfliger, Irene Monika, Švara, Tanja, Gombač, Mitja, Klinc, Primož, Škibin, Andrej, Pogorevc, Estera, Drögemüller, Cord |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977343/ https://www.ncbi.nlm.nih.gov/pubmed/31969185 http://dx.doi.org/10.1186/s13028-020-0503-z |
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