Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Journal of the European Academy of Dermatology and Venereology

• Publication date

  2018-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/jdv.14939PMID 29524272
• 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.

• Pseudoxanthoma elasticum

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• Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

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• Pseudoxanthoma Elasticum.

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• Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

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• Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

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• ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

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• Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

  2000cited by this paper
• Classification of pseudoxanthoma elasticum: report of a consensus conference.

  1994cited by this paper

• No citing papers are available for this paper.