Article

Expanding the phenotypic spectrum of Rauch-Steindl syndrome: A novel NSD2 variant with atrial septal defect in a Chinese patient

2025-12-01

Abstract excerpt

<title>Abstract</title> <p> Background Rauch-Steindl syndrome (RSS) is a very rare autosomal dominant disorder caused by pathogenic variants in the <italic>NSD2</italic> gene, characterized by dysmorphic facial features, prenatal and postnatal growth retardation, and variable developmental delay. Case presentation : We report the case of a 16-month-old Han Chinese girl who presented with typical features of RS...

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Literature Corpus work: d36c6c74-a922-5537-9beb-90ab2bf58ccf
DOI: 10.21203/rs.3.rs-7605765/v1

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