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Article

Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).

Journal of neurosurgery. Pediatrics - 1 Oct 2011

Yamasaki Mami, Nonaka Masahiro, Suzumori Nobuhiro, Nakamura Hiroaki, Fujita Hiroshi, Namba Akira, Kamei Yoshimasa, Yamada Takahiro, Pooh Ritsuko K, Tanemura Mitsuyo, Sudo Norihito, Nagasaka Masato, Yoshioka Ema, Shofuda Tomoko, Kanemura Yonehiro

Abstract excerpt

OBJECT: The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked hydrocephalus (XLH). METHODS: In a nationwide study conducted in Japan between 1999 and 2009, the authors identified 51 different L1CAM gene mutations in 56 families with XLH. Of these 56 families, 9 obligate carriers requested prenatal gene mutation analysis for the fetal L1CAM gene in 14 pregnancies....

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Source

Identifiers

PMID: 21961551
DOI: 10.3171/2011.7.PEDS10531

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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