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Article

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.

Acta dermato-venereologica - 1 Nov 2013

Faria Caroline Silvério, Li Qiaoli, Guo Haitao, Uitto Jouni, Takeno Sylvia Satomi, de Arruda Cardoso Smith Marilia, Freire-Maia Dertia Villalba

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Identifiers

PMID: 23572048
DOI: 10.2340/00015555-1570
PMCID: PMC4006978

Genes

ABCC6

Provenance

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Related research

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Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.PMID 23572048Read ↗

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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.Semantic proximity Read ↗

Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic ApproachesSemantic proximity Read ↗

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Semantic proximity Read ↗

Novel ABCC6 mutations in pseudoxanthoma elasticum.Semantic proximity Read ↗

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.Semantic proximity Read ↗

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.Semantic proximity Read ↗

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.Semantic proximity Read ↗

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.Semantic proximity Read ↗

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.Semantic proximity Read ↗

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].Semantic proximity Read ↗

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