Associated Papers
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Brunetti-Pierri N et al.
American Journal of Medical Genetics. Part A, 2003
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.
Dahl HH et al.
Molecular Genetics and Metabolism, 1999
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
Daniele A et al.
American Journal of Human Genetics, 1998
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