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
The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.
Battaglia A et al.
American Journal of Medical Genetics. Part A, 2021
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
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Jiang Y et al.
Bmc Medical Genetics, 2019
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Derar N et al.
Genetics in Medicine : Official Journal of the American College of 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
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