- Article
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Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability
- Sunwoo Liv Lee,
- Alison Foster,
- Dalit May,
- Ciara Batterton,
- Eguzkine Ochoa,
- Bryndis Yngvadottir,
- Ruth Armstrong,
- Meena Balasubramanian,
- Mary O’Driscoll and
- Marc Tischkowitz
- + 5 authors
Background: Germline pathogenic variants in NSD1 cause Sotos syndrome, a developmental disorder characterised by overgrowth, intellectual disability, macrocephaly, developmental anomalies, and, in some cases, tumour development. Familial cases of Sot...