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
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Hu X et al.
Bmc Medical Genomics, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.
Barrie ES et al.
Cold Spring Harbor Molecular Case Studies, 2019
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