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. 2023 Nov 21;10:1258807. doi: 10.3389/fcvm.2023.1258807

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© 2023 Li, Wang, Yang, Liu, Liu and Zhang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigree and CDH2 mutation analysis. (A) The pedigree of the patient. Squares indicated male family members and circles denoted female family members. (B) Sanger sequencing shows a heterozygous missense mutation, c.547C > G (p. P183A), in exon 5 of the CDH2 gene of the proband for the elder brother and father. The arrow indicates the mutation site. (C) The predicted 3D structure of CDH2 protein with wild-type A and mutated type B(pGenTHREADER). The yellow color indicates the functional region located by the mutated amino acid (183Pro-Ala) which is highlighted by the red color.