Advanced genetics
61,11 €
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.
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.
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