Volume 61, Pages 63-69 (August 2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis Qing-Li Wang, MD,

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Volume 61, Pages 63-69 (August 2016) Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis Qing-Li Wang, MD, Shanna Guo, MD, Guangyou Duan, MD, Ying Ying, MD, Penghao Huang, MD, Jing Yu Liu, PhD, Xianwei Zhang, MD, PhD Pediatric Neurology Volume 61, Pages 63-69 (August 2016) DOI: 10.1016/j.pediatrneurol.2016.04.006 Copyright © 2016 The Authors Terms and Conditions

Figure 1 The pictures involving clinical features of Patients 1, 2, and 3. (The color version of this figure is available in the online edition.) Pediatric Neurology 2016 61, 63-69DOI: (10.1016/j.pediatrneurol.2016.04.006) Copyright © 2016 The Authors Terms and Conditions

Figure 2 Sequencing chromatographs of the six variants in five patients and their parents from four unrelated families. (The color version of this figure is available in the online edition.) Pediatric Neurology 2016 61, 63-69DOI: (10.1016/j.pediatrneurol.2016.04.006) Copyright © 2016 The Authors Terms and Conditions

Figure 3 The crystal structure of amino acids 498-796 of the human NTRK1 (PDB ID = 4F0I). (A) The catalytic domain, amino acids 510-781, is shown in yellow ribbons, in which, three mutated Leu601, Arg692, and Arg771 are all colored red. (B) The lost catalytic domain due to p.Arg602* is shown in gray ribbons. The residue Arg602 is colored red. PDB, Protein Data Bank. (The color version of this figure is available in the online edition.) Pediatric Neurology 2016 61, 63-69DOI: (10.1016/j.pediatrneurol.2016.04.006) Copyright © 2016 The Authors Terms and Conditions

Figure 4 Multiple sequence alignment: Leu601, Arg692, and Arg771 of human NTRK1 are evolutionarily conserved as shown in four representative species. (The color version of this figure is available in the online edition.) Pediatric Neurology 2016 61, 63-69DOI: (10.1016/j.pediatrneurol.2016.04.006) Copyright © 2016 The Authors Terms and Conditions