Research graph
References from Case Report: Congenital Insensitivity to Pain With Anhidrosis in a Lebanese Child With a Homozygous NTRK1 Splice-Region Variant and Heterozygous MEFV A744S: A Case Report. Local targets link to admitted publications; unresolved targets remain external evidence.
Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV: clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
2002 · External reference
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
10.1038/ng0896-485 · 1996 · External reference
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis.
10.2147/jpr.s188234 · 2019 · External reference
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
10.1007/s10048-021-00668-z · 2021 · External reference
Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.
10.1002/mus.21340 · 2009 · External reference
Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis.
10.1111/j.1469-8749.2009.03567.x · 2010 · External reference
Congenital insensitivity to pain: orthopaedic manifestations.
10.1302/0301-620x.84b2.0840252 · 2002 · External reference
Oral manifestations of hereditary sensory and autonomic neuropathy type IV: congenital insensitivity to pain with anhidrosis.
10.1016/s1079-2104(98)90368-7 · 1998 · External reference
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications.
10.1016/j.otsr.2013.05.006 · 2013 · External reference
A new set of criteria for the diagnosis of familial Mediterranean fever in childhood.
10.1093/rheumatology/ken509 · 2009 · External reference
EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update.
10.1016/j.ard.2025.01.028 · 2025 · External reference
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
10.1093/rheumatology/keaf139 · 2025 · External reference
Updates on the molecular spectrum of MEFV variants in Lebanese patients with familial Mediterranean fever.
10.3389/fgene.2024.1506656 · 2025 · External reference
The CARE guidelines: consensus-based clinical case reporting guideline development.
10.1016/j.jclinepi.2013.08.003 · 2014 · External reference
