Abstract

Address: 1Department of Neurosurgery, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, Osaka, 540-0006, Japan, 2Institute for clinical research, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, Osaka, 540-0006, Japan and 3Department of Pediatric Neurosurgery, Osaka City General Hospital 2-13-22 Miyakojima-hondouri, Miyakojimaku, osaka city, Osaka, 534-0021, Japan

Highlights

  • X-linked hydrocephalus (XLH) is known to be due to mutations in the gene for the neural cell adhesion molecule L1

  • 50th Annual Meeting of the Society for Research into Hydrocephalus and Spina Bifida Meeting abstracts – A single PDF containing all abstracts in this supplement is available here.

  • We evaluated effective methods and discussed contribution for the prenatal diagnosis of XLH

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Summary

Introduction

X-linked hydrocephalus (XLH) (severe type of human L1 syndrome) is known to be due to mutations in the gene for the neural cell adhesion molecule L1. Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus Mami Yamasaki*1, Tomoko shohuda2, Hiroaki Sakamoto3, Masahiro Nonaka1 and Yonehiro Kanemura2 Address: 1Department of Neurosurgery, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, Osaka, 540-0006, Japan, 2Institute for clinical research, Osaka National Hospital, National hospital organization, 2-1-14 Hoenzaka, Chuo-ku, osaka city, Osaka, 540-0006, Japan and 3Department of Pediatric Neurosurgery, Osaka City General Hospital 2-13-22 Miyakojima-hondouri, Miyakojimaku, osaka city, Osaka, 534-0021, Japan Email: Mami Yamasaki* - yamasaki@onh.go.jp * Corresponding author from 50th Annual Meeting of the Society for Research into Hydrocephalus and Spina Bifida Cambridge, UK.

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