Associated Papers
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 2025
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2022
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
Deng F et al.
Human Mutation, 2022
35391499 (PubMed )
Supplement: HUMU-43-919-s002.xlsx › Sheet1
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ et al.
Neurology, 2015
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