Clinical utility gene card: for pseudoxanthoma elasticum

No abstract is available for this paper.

• Publication year

  2018

• Venue

  European Journal of Human Genetics

• Publication date

  2018-02-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/s41431-017-0090-2PMID 29487417PMCID PMC5974343
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

  2017cited by this paper
• GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

  2017cited by this paper
• Pseudoxanthoma elasticum: diagnostic features, classification and treatment options

  2014cited by this paper
• ABCC6–Mediated ATP Secretion by the Liver Is the Main Source of the Mineralization Inhibitor Inorganic Pyrophosphate in the Systemic Circulation—Brief Report

  2014cited by this paper
• Pseudoxanthoma Elasticum: Cardiac Findings in Patients and Abcc6-Deficient Mouse Model

  2013cited by this paper
• Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

  2012cited by this paper
• Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

  2010cited by this paper
• Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

  2009cited by this paper
• Magnesium Carbonate‐Containing Phosphate Binder Prevents Connective Tissue Mineralization in Abcc6−/− Mice–Potential for Treatment of Pseudoxanthoma Elasticum

  2009cited by this paper
• Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy

  2008cited by this paper
• Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

  2008cited by this paper
• Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

  2007cited by this paper
• Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.

  2006cited by this paper
• The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

  2005cited by this paper
• A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

  2001cited by this paper
• Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

  2001cited by this paper
• Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

  2001cited by this paper
• Mutations in ABCC6 cause pseudoxanthoma elasticum

  2000cited by this paper

• Genotype-phenotype correlation in pseudoxanthoma elasticum.

  2021cites this paper