Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

American journal of medical genetics. Part A - 1 Nov 2011

Vanakker Olivier M, Leroy Bart P, Schurgers Leon J, Vermeer Cees, Coucke Paul J, De Paepe Anne

Abstract excerpt

A patient is presented with severe cutis laxa of the abdomen. Molecular investigations, including sequencing of the fibulin-5 and elastin gene, failed to endorse the diagnosis of inherited cutis laxa. Ultrasonographical discovery of renal calcifications during his general work-up suggested a possible diagnosis of pseudo-xanthoma elasticum (PXE). A discrete yellowish reticular pattern in the anterior neck region...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcinosis
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cutis Laxa

Share to Elastic Tissue

Share to Multidrug Resistance-Associated Proteins

Share to Physical Examination

Share to Pseudoxanthoma Elasticum

Share to Ultrasonography

Source

Identifiers

PMID: 21964806
DOI: 10.1002/ajmg.a.34264

Genes

ABCC6
GGCX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?PMID 21964806Read ↗

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype.Semantic proximity Read ↗

Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.Semantic proximity Read ↗

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.Semantic proximity Read ↗

Pseudoxanthoma elasticum-like phenotypes: more diseases than one.Semantic proximity Read ↗

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentSemantic proximity Read ↗

Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in theENPP1geneSemantic proximity Read ↗

Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.Semantic proximity Read ↗

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.Semantic proximity Read ↗

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.Semantic proximity Read ↗

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

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.Semantic proximity Read ↗

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.