Dwarfism (ACAN, chondrodysplasia)

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Horse · Caballo miniatura, Shetland

SKU: ecms Category:

Skeletal dwarfism (achondroplasia) caused by variants in ACAN (aggrecan), a cartilage matrix protein. It presents with markedly reduced stature, abnormal proportions and osteoarticular alterations; homozygotes have a more severe phenotype. The test is complementary to clinical and radiographic examination.

Dwarfism (ACAN, chondrodysplasia) →