Mucopolysaccharidosis type VI (MPS6)

(Balinese, Birman, Domestic Shorthair, Javanese, Oriental Shorthair, Peterbald, Seychellois,... more
Заболевание
autosomal recessive
Порода
Balinese, Birman (Sacred cat of Burma), European Shorthair, Javanese, Oriental Shorthair (OSH), Peterbald, Siamese, Thai, Tonkinese
Тип наследования
Cats with MPS VI which show the severe phenotype exhibit dwarfism and facial dysmorphia due to epiphyseal dysplasia and lysosomal inclusions in most tissues including chondrocytes, corneal clouding, degenerative joint disease and abnormal leukocyte inclusions. Cats with the mild phenotype show similar but milder symptoms and have normal growth and appearance.
Длительность теста
sequencing
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