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

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

European journal of medical genetics - 1 Jan 2000

Rué Marjory, Lüdecke Hermann-Josef, Sibon Igor, Richez Christophe, Taine Laurence, Foubert-Samier Alexandra, Arveiler Benoit, Schaeverbeke Thierry, Lacombe Didier, Tison François, Goizet Cyril

Abstract excerpt

Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Fingers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Diseases

Share to Nervous System Diseases

Share to Repressor Proteins

Share to Rheumatic Diseases

Share to Sequence Alignment

Source

Identifiers

PMID: 21524721
DOI: 10.1016/j.ejmg.2011.04.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.PMID 21524721Read ↗

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.Semantic proximity Read ↗

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.Semantic proximity Read ↗

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.Semantic proximity Read ↗

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.Semantic proximity Read ↗

Trichorhinophalangeal syndrome, type I.Semantic proximity Read ↗

Trichorhinophalangeal syndrome type II presenting with short stature in a child.Semantic proximity Read ↗

Tricho-rhino-phalangeal syndrome type I in a Japanese boy.Semantic proximity Read ↗

Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective StudySemantic proximity Read ↗

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSemantic proximity Read ↗

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.Semantic proximity Read ↗

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.Semantic proximity Read ↗

Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-upSemantic proximity Read ↗

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