Results 41 to 50 of about 1,205 (182)
Congenital insensitivity to pain with anhidrosis [PDF]
International Orthopaedics, 1998 PubMedID ...
Herdem M. +3 more
openaire +1 more source
Hereditary autonomic neuropathy of the oral cavity and its management: A case report [PDF]
, 2022 Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders that often manifest during childhood in the form of absence of pain sensation or self-mutilation.
Ardakani, Hossein Shojaaldini +4 more
core +2 more sources
Neuropathology and Applied Neurobiology, Volume 48, Issue 7, December 2022., 2022 SPTLC1 spectrum disorder ranges from adult onset sensory neuropathy to childhood onset ALS and they are related to perturbed homeostasis of sphingolipids which can betreatable. Mutation of the S331 codon of SPLTC1 gene were related to a separate syndromic phenotype.
Chiara Fiorillo +30 more
wiley +1 more source
The Israeli National Genetic database: a 10-year experience [PDF]
, 2017 BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients.
Patrinos, G.P. (George P.) +1 more
core +10 more sources
Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
Clinical Case Reports, Volume 10, Issue 7, July 2022., 2022 Abstract Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
Violet Wallerstein +2 more
wiley +1 more source
A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA) [PDF]
, 2012 How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.
FALLAH, Razieh, KARIMI, Mehran
core +3 more sources
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]
, 2016 BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq +7 more
core +3 more sources
Tomography, 2023 Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates
Cheng-Chun Chiang +5 more
doaj +1 more source
Congenital insensitivity to pain with anhidrosis: a case report [PDF]
Journal of Korean Medical Science, 1999 Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation.
J S, Kim +6 more
openaire +2 more sources
Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]
, 2007 PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal +1 more
core +3 more sources