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

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.

Journal of pediatric surgery - 1 Dec 2012

Kulkarni Ketan, Desai Sunil, Grundy Paul, Sergi Consolato

Abstract excerpt

Infantile myofibromatosis (IM) is a benign tumor occurring in infants and young children. Familial IM is rare and the inheritance pattern of IM is unclear. We report on a unique family with four individuals having IM of varying degrees of severity with autosomal dominant inheritance pattern and variable penetrance.

Read the complete abstract on PubMed

Topics

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

Share to Antineoplastic Combined Chemotherapy Protocols
Share to Chromosome Disorders
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Penetrance

Share to Risk Assessment

Share to Skin Neoplasms

Share to Treatment Outcome

Source

Identifiers

PMID: 23217896
DOI: 10.1016/j.jpedsurg.2012.09.046

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.PMID 23217896Read ↗

Autosomal dominant inheritance of infantile myofibromatosis.Semantic proximity Read ↗

Infantile inflammatory myofibroblastic tumors: clinicopathological and molecular characterization of 12 cases.Semantic proximity Read ↗

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working GroupSemantic proximity Read ↗

Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.Semantic proximity Read ↗

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.Semantic proximity Read ↗

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.Semantic proximity Read ↗

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.Semantic proximity Read ↗

Myofibroma of the tongue: a case suggesting autosomal dominant inheritance.Semantic proximity Read ↗

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB geneSemantic proximity Read ↗

Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and MyopericytomasSemantic proximity Read ↗

[Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].Semantic proximity Read ↗

Association of PDGFRB Mutations With Pediatric Myofibroma and MyofibromatosisSemantic proximity Read ↗

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