Associated Papers
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
39191170 (PubMed )
Supplement: mmc1.pdf
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles.
Rubadeux D et al.
Molecular Syndromology, 2024
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric Neurology, 2023
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2016
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2015
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