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- W2062563367 abstract "Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14-year-old Somali patient and her 3-year-old maternal half-brother with novel homozygous CHST3 mutations. The proband presented at the age 5½ years with short stature and genua valga. Her clinical course was characterized by rapid progression of spinal deformities and large joint contractures. Her half-brother presented at birth with bilateral knee dislocation and talipes equinovarus. This report of a Somali family with CHST3-related chondrodysplasia illustrates the intrafamilial variability in phenotypic expression of this rare disorder. © 2013 Wiley Periodicals, Inc." @default.
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- W2062563367 date "2013-07-01" @default.
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- W2062563367 title "Two somali half-siblings withCHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability" @default.
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- W2062563367 doi "https://doi.org/10.1002/ajmg.a.36094" @default.
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