Associated Papers
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Vrečar I et al.
Molecular Cytogenetics, 2015
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
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
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
Parenti G et al.
American Journal of Medical Genetics, 1997
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