Associated Papers
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
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Motta M et al.
Human Molecular Genetics, 2022
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The leucine-rich repeat signaling scaffolds Shoc2 and Erbin: cellular mechanism and role in disease.
Jang H et al.
The Febs Journal, 2021
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta M et al.
Human Mutation, 2019
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