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

Trichorhinophalangeal syndrome type II presenting with short stature in a child.

Archivos argentinos de pediatria - 1 Dec 2016

Hazan Filiz, Korkmaz Hüseyin A, Yararbaş Kanay, Wuyts Wim, Tükün Ajlan

Abstract excerpt

Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Dwarfism
Share to EXT1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 27869420
DOI: 10.5546/aap.2016.eng.e403

Genes

EXT1
TRPS1

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

Trichorhinophalangeal syndrome type II presenting with short stature in a child.PMID 27869420Read ↗

Trichorhinophalangeal syndrome, type I.Semantic proximity Read ↗

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 ↗

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literatureSemantic proximity Read ↗

[Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].Semantic proximity Read ↗

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.Semantic proximity Read ↗

Prenatal Diagnosis of Trichothiodystrophy Associated with a Novel ERCC2 Variant: Expanding the Genotype–Phenotype Spectrum— a case reportSemantic 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 ↗

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.Semantic proximity Read ↗

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

Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.Semantic proximity Read ↗

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

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

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