Clinical details of individuals with Rauch –Steindl syndrome due to NSD2 truncating variants

ConclusionWe present a novel variant and clinical presentations of RAUST, expand the molecular and clinical diversity of RAUST, and improve our understanding of this rare syndrome, which is distinct from WHS. Further researches are needed on more RAUST cases and on functional analysis ofNSD2.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2396?af=R

Source: Molecular Genetics & Genomic Medicine - February 14, 2024 Category: Genetics & Stem Cells Authors: Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto Tags: ORIGINAL ARTICLE Source Type: research