Article
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
American journal of medical genetics - 28 Jun 1996
Cole D E, Fukuda S, Gordon B A, Rip J W, LeCouteur A N, Rupar C A, Tomatsu S, Ogawa T, Sukegawa K, Orii T
Abstract excerpt
Morquio disease (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Patients commonly present in early infancy with growth failure, spondyloepiphyseal dysplasia, corneal opacification, and keratan sulfaturia, but milder forms have been described. We report on a patient who grew normally until age 5 years. Her keratan sulfaturia was not...
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