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

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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...

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

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

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Background: The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among...

Continue ReadingNEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases