Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.
Aoki E et al.
Molecular Genetics and Metabolism Reports, 2023
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Vrečar I et al.
Molecular Cytogenetics, 2015
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
Meyer S et al.
American Journal of Medical Genetics. Part A, 2013
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
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Franco B et al.
Cell, 1995
Select a paper to view details