Article

Identification of One BOCR Mutation and Five NF1 Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the Tibia

2016-09-07

Abstract excerpt

Neurofibromatosis type1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1gene. Although congenital pseudarthrosis of the tibia (CPT) has frequently been associated with NF1, the underlying molecular mechanism of CPT in these NF1 patients is yet ill-understood. The aim of the present study was to detect NF1 mutations from genomic DNA and to harbor variants associated with CPT in NF1 patients. W...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 19e1e7d5-ac74-531b-b37c-c640dedf55c9
DOI: 10.20944/preprints201609.0024.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of One BOCR Mutation and Five NF1 Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the TibiaDOI 10.20944/preprints201609.0024.v1Read

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patientsSemantic proximity Read

Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 ProbandsSemantic proximity Read

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.Semantic proximity Read

Case Report: Aggressive Tibial Pseudarthrosis as Primary Symptom in Infant with NeurofibromatosisSemantic proximity Read

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.Semantic proximity Read

Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1.Semantic proximity Read

A Comprehensive Overview of NF1 Mutations in Iranian Patients.Semantic proximity Read

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].Semantic proximity Read

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.Semantic proximity Read

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature reviewSemantic proximity Read

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University HospitalSemantic proximity Read

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample DatabaseSemantic proximity Read

Identification of One <em>BOCR</em> Mutation and Five <em>NF1</em> Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the Tibia

Abstract excerpt

Topics

Identifiers and source

Related research