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. 2019 Sep 11;10:817. doi: 10.3389/fgene.2019.00817

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Copyright © 2019 Sun, Li, Chen, Luo, Qian, Yang, Lu, Lou and Dong

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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(A) Pedigree of the family. TOP, termination of pregnancy. (B) Imaging examinations of the fetus. Fetal ultrasound scan and fetal MRI showed there was severe hydrocephalus in the fetus. (C) Sequence analysis of genomic DNA from family members. The genotypes of L1CAM were wild type, c.453G > T Het, and c.453G > T Hom, in I:1 (husband), I:2 (pregnant woman), and II:5 (fetus). The mutation is indicated by the red arrows.