Associated Papers
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E et al.
Molecular Genetics & Genomic Medicine, 2024
Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.
Yang Q et al.
Frontiers in Pediatrics, 2023
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
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