Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Broeren E et al.
Prenatal Diagnosis, 2024
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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Vrečar I et al.
Molecular Cytogenetics, 2015
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
Sheffield LJ et al.
Journal of Medical Genetics, 1998
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