Advanced genetics
52,60 €
Dwarfism with skeletal dysplasia associated with a variant in B4GALT7 (β-1,4-galactosyltransferase 7, involved in proteoglycan linker synthesis). It forms part of the Friesian FH8 haplotype, with juvenile mortality and abnormal stature in homozygotes. Autosomal recessive inheritance. The test is complementary to clinical and radiographic examination.
Dwarfism with skeletal dysplasia associated with a variant in B4GALT7 (β-1,4-galactosyltransferase 7, involved in proteoglycan linker synthesis). It forms part of the Friesian FH8 haplotype, with juvenile mortality and abnormal stature in homozygotes. Autosomal recessive inheritance. The test is complementary to clinical and radiographic examination.
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