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

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

American journal of medical genetics. Part A - 1 May 2016

Karagianni Paraskevi, Lambropoulos Vassilios, Stergidou Dorothea, Fryssira Helena, Chatziioannidis Ilias, Spyridakis Ioannis

Abstract excerpt

Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematologic Diseases

Share to Histone Demethylases

Share to Intellectual Disability

Share to Neoplasm Proteins

Share to Neoplasm Recurrence, Local

Share to Vestibular Diseases

Source

Identifiers

PMID: 26898171
DOI: 10.1002/ajmg.a.37584

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

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.PMID 26898171Read ↗

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.Semantic proximity Read ↗

Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutationSemantic proximity Read ↗

[Kabuki syndrome: Update and review].Semantic proximity Read ↗

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Semantic proximity Read ↗

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Semantic proximity Read ↗

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.Semantic proximity Read ↗

Kabuki syndrome revisited.Semantic proximity Read ↗

Newly recognized orbital malformations in kabuki syndrome: A case report.Semantic proximity Read ↗

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.Semantic proximity Read ↗

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.Semantic proximity Read ↗

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.Semantic proximity Read ↗

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.Semantic proximity Read ↗

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