Associated Papers
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E et al.
Molecular Genetics & Genomic Medicine, 2024
Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development.
Su D et al.
The Journal of Biological Chemistry, 2023
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Jiang Y et al.
Bmc Medical Genetics, 2019
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ et al.
American Journal of Medical Genetics. Part A, 2018
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
Lozier ER et al.
Journal of Human Genetics, 2018
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