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

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

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

Toiviainen-Salo Sanna, Linnankivi Tarja, Saarinen Anne, Mäyränpää Mervi K, Karikoski Riitta, Mäkitie Outi

Abstract excerpt

Cerebral cysts and calcifications with leukoencephalopathy and retinal vascular abnormalities are diagnostic hallmarks of cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Previous studies have suggested that skeletal involvement is also common, but its characteristics remain unknown. This study aimed to assess the skeletal phenotype in CRMCC. All Finnish patients with features consistent with...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Metabolic
Share to Calcinosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Growth Disorders

Share to LDL-Receptor Related Proteins

Share to Leukoencephalopathies

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Radiography

Share to Retinal Vessels

Source

Identifiers

PMID: 21523908
DOI: 10.1002/ajmg.a.33994

Genes

LRP5

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.PMID 21523908Read ↗

Brain Calcifications: Genetic, Molecular, and Clinical Aspects.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).Semantic proximity Read ↗

Potential blindness in children of patients with hereditary bone disease.Semantic proximity Read ↗

Recognizable phenotypes associated with intracranial calcification.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts: A case report.Semantic proximity Read ↗

The clinical and genetic spectrum of primary familial brain calcification.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

CTC 1 mutations in a Brazilian family with progeroid features and recurrent bone fracturesSemantic proximity Read ↗

The Genetics of Primary Familial Brain Calcification: A Literature Review.Semantic proximity Read ↗

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.Semantic proximity Read ↗

Summary author response: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.Semantic proximity Read ↗

A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance.Semantic proximity Read ↗

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