C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.

doi:10.1038/ncomms7894

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Article

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.

Nature communications - 23 Apr 2015

Floriot Sandrine, Vesque Christine, Rodriguez Sabrina, Bourgain-Guglielmetti Florence, Karaiskou Anthi, Gautier Mathieu, Duchesne Amandine, Barbey Sarah, Fritz Sébastien, Vasilescu Alexandre, Bertaud Maud, Moudjou Mohammed, Halliez Sophie, Cormier-Daire Valérie, Hokayem Joyce E L, Nigg Erich A, Manciaux Luc, Guatteo Raphaël, Cesbron Nora, Toutirais Geraldine, Eggen André, Schneider-Maunoury Sylvie, Boichard Didier, Sobczak-Thépot Joelle, Schibler Laurent

Abstract excerpt

Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that...

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PMID: 25902731
DOI: 10.1038/ncomms7894
PMCID: PMC4423223

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Source receipt: pubmed, retrieved 7 Sept 2026.

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