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

Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.

American journal of medical genetics. Part A - 1 Aug 2021

Rustad Cecilie F, Tveten Kristian, Prescott Trine E, Bjerkeseth Peder O, Bredrup Cecilie, Pfeiffer Helle Cecilie Viekilde

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Child
Disease Management
Genetic Association Studies
Genetic Variation
Imatinib Mesylate
Receptor, Platelet-Derived Growth Factor beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Treatment Outcome

Source

Identifiers

PMID: 33979467
DOI: 10.1002/ajmg.a.62264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.PMID 33979467Read ↗

Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.Semantic proximity Read ↗

Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1.Semantic proximity Read ↗

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.Semantic proximity Read ↗

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.Semantic proximity Read ↗

Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.Semantic proximity Read ↗

Expansion of the phenotype of Kosaki overgrowth syndrome.Semantic proximity Read ↗

Exquisite response to imatinib mesylate in FIP1L1-PDGFRA-mutated hypereosinophilic syndrome: a 12-year experience of the Polish Hypereosinophilic Syndrome Study Group.Semantic proximity Read ↗

Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophiliaSemantic proximity Read ↗

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.Semantic proximity Read ↗

Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North AmericaSemantic proximity Read ↗

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.Semantic proximity Read ↗

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapySemantic proximity Read ↗

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