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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1009 - 1016
Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by... 
NGF‐nerve growth factor | ADHD‐attention deficit hyperactivity disorder | CIPA‐congenital insensitivity to pain with anhidrosis | NTRK1‐neurotrophic tyrosine kinase receptor type 1 | HSAN‐hereditary sensory and autonomic neuropathy | NGF-nerve growth factor | CIPA-congenital insensitivity to pain with anhidrosis | ADHD-attention deficit hyperactivity disorder | NTRK1-neurotrophic tyrosine kinase receptor type 1 | HSAN-hereditary sensory and autonomic neuropathy | CONGENITAL INSENSITIVITY | TYROSINE KINASE | TRKA/NGF RECEPTOR GENE | NERVE GROWTH-FACTOR | HIGH-AFFINITY RECEPTOR | ANHIDROSIS CIPA | PAIN | GENETICS & HEREDITY | TRK RECEPTORS | NEUROTROPHIN RECEPTORS | NEUROPATHY TYPE-IV | Neurons - pathology | Hereditary Sensory and Autonomic Neuropathies - physiopathology | Humans | Child, Preschool | Male | Mutation, Missense | Exome | Saudi Arabia | Chromosomes, Human, Pair 1 | Base Sequence | Female | Neurons - metabolism | Child | Hypohidrosis - physiopathology | Severity of Illness Index | Gene Expression | Nerve Growth Factor - metabolism | Protein Structure, Secondary | Models, Molecular | Nerve Growth Factor - genetics | Codon, Nonsense | Genes, Recessive | Intellectual Disability - physiopathology | Phenotype | Self-Injurious Behavior - physiopathology | Receptor, trkA - metabolism | Adolescent | Receptor, trkA - chemistry | Protein Binding | Receptor, trkA - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Consanguinity | High-Throughput Nucleotide Sequencing | Hereditary Sensory and Autonomic Neuropathies - diagnosis | Tyrosine | Nerve growth factor | Genetic aspects | Genotype & phenotype | Rodents | Mutation
Journal Article
Journal Article
日本口腔外科学会雑誌, ISSN 0021-5163, 2016, Volume 62, Issue 2, pp. 95 - 99
Congenital insensitivity to pain with anhidrosis( CIPA) is associated with systemic sweating and loss of pain and temperature senses; the clinical symptoms... 
先天性無痛無汗症 | 舌下面難治性潰瘍 | 遺伝性感覚自律性ニューロパチーⅣ型
Journal Article
日本口腔外科学会雑誌, ISSN 0021-5163, 2004, Volume 50, Issue 12, pp. 765 - 768
We report a case of congenital insensitivity to pain with anhidrosis (CIPA), a intractable ulcer of the oral mucosa, and fever of unknown origin. A 4-month-old... 
難治性潰瘍 | 不明熱 | 先天性無痛無汗症
Journal Article
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