Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation inL1CAMgene
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynaecology
Link
http://www.tandfonline.com/doi/pdf/10.3109/01443615.2015.1086982
Reference10 articles.
1. Non‐neuronal cell responses differ between normal and Down syndrome developing brains
2. Spectrum and detection rate ofL1CAM mutations in isolated and familial cases with clinically suspected L1-disease
3. CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1
4. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
5. Genotype-phenotype correlation in L1 associated diseases.
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1. L1 Syndrome-Associated Phenotypes and a Novel L1CAM Variant: A Clinical Report;Journal of Pediatric Neurology;2024-04-25
2. The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome;Annals of Neurosciences;2023-09-18
3. X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease;Experimental Neurology;2023-08
4. Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus;Frontiers in Genetics;2022-04-29
5. Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester;Taiwanese Journal of Obstetrics and Gynecology;2022-03
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