Prenatal Diagnosis of X-linked Hydrocephalus in a Family with a Novel Mutation in L1CAM Gene
Overview
Affiliations
The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.
Shrinivasamurthy M, Benakanal S, Kakanahalli N Ann Neurosci. 2025; 32(1):38-46.
PMID: 40026328 PMC: 11869245. DOI: 10.1177/09727531231185224.
Hart M, Conrad J, Barrett E, Legg K, Ivey G, Lee P Exp Neurol. 2023; 366:114433.
PMID: 37156332 PMC: 10330542. DOI: 10.1016/j.expneurol.2023.114433.
Case Report: Two Novel Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus.
Zhou H, Yu Q, Li Y, Fu F, Li R, Chen G Front Genet. 2022; 13:810853.
PMID: 35571029 PMC: 9099044. DOI: 10.3389/fgene.2022.810853.
Wang R, Chen H, Wang X, Huang S, Xie A, Wu X Exp Ther Med. 2021; 22(6):1416.
PMID: 34676009 PMC: 8524657. DOI: 10.3892/etm.2021.10807.
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C Ann Clin Transl Neurol. 2021; 8(10):2004-2012.
PMID: 34510796 PMC: 8528460. DOI: 10.1002/acn3.51448.