Article

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case Report

2020-03-12

Abstract excerpt

<h4>Objective: </h4> Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessively inherited disorder characterized by insensitivity to noxious stimuli and inability to sweat. Methods : In this case report, an 18-year-old Chinese boy diagnosed with CIPA with the clinical features of loss of algesthesis, inability to sweat, self-mutilation, developmental delay and dislocation of the left h...

Topics

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

Identifiers and source

Literature Corpus work: 62d63fc9-ea0f-59d3-ba2b-2ecc91d36da3
DOI: 10.21203/rs.3.rs-17020/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel NTRK1 mutation in Chinese patient with congenital insensitivity to pain with anhidrosis: A Case ReportDOI 10.21203/rs.3.rs-17020/v1Read

Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With AnhidrosisSemantic proximity Read

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.Semantic proximity Read

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literatureSemantic proximity Read

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.Semantic proximity Read

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.Semantic proximity Read

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.Semantic proximity Read

Congenital insensitivity to pain with anhidrosis: A report of two unrelated Chinese families with novel mutations in NTRK1 gene.Semantic proximity Read

Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).Semantic proximity Read

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.Semantic proximity Read

[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis].Semantic proximity Read

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.Semantic proximity Read

Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosisSemantic proximity Read