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Article

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

Acta dermato-venereologica - 6 Jul 2017

Lepelletier Clemence, Al-Sarraj Yasser, Bodemer Christine, Shaath Hibbah, Fraitag Sylvie, Kambouris Marios, Hamel-Teillac Dominique, El Shanti Hatem, Hadj-Rabia Smail

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28417142
DOI: 10.2340/00015555-2671

Genes

PDGFRB

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Related research

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Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.PMID 28417142Read ↗

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

Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?Semantic proximity Read ↗

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

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

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

Association of PDGFRB Mutations With Pediatric Myofibroma and MyofibromatosisSemantic 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 ↗

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen SyndromeSemantic proximity Read ↗

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

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

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

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

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