Associated Papers
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
El-Bazzal L et al.
European Journal of Medical Genetics, 2019
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Gentile M et al.
Clinical Genetics, 2019
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
Pogue R et al.
American Journal of Medical Genetics. Part A, 2017
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
Farhan SM et al.
Journal of Medical Genetics, 2015
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