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...

WeiterlesenC-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...

WeiterlesenNEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

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Abstract Background: Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include...

WeiterlesenAsphyxiating thoracic dysplasia: clinical and molecular review of 39 families