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CIPA is brought on by mutations into the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) that encodes the high-affinity receptor of neurological development aspect (NGF). Here, we provide clinical and molecular results in a 9-year-old woman with CIPA. The high-altitude indigenous Ecuadorian patient introduced a few health issues such anhidrosis, bone cracks, self-mutilation, osteochondroma, intellectual impairment and Riga-Fede disease. Following the mutationa
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