Associated Papers
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.
Higashimoto T et al.
Molecular Genetics & Genomic Medicine, 2024
39465509 (PubMed )
Supplement: MGG3-12-e70027-s002.docx
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.
Li S et al.
Pain, 2024
A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.
Sun L et al.
Frontiers in Genetics, 2024
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
Li L et al.
Frontiers in Pediatrics, 2021
33748046 (PubMed )
Supplement: Table_2.XLSX › Sheet2
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
Zhao F et al.
European Journal of Neurology, 2020
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis.
Li N et al.
Journal of Pain Research, 2019
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu Z et al.
The Journal of International Medical Research, 2018
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.
Wang QL et al.
Pediatric Neurology, 2016
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Geng X et al.
Molecular Pain, 0
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