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Article

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation - 1 Jan 2026

Kong Yi, Wang Yousheng, Wang Xingwang, Guo Li, Chen Jianhong, Ji Yan, Liu Jiaolan, Xu Wanfang, Du Weiling, Wang Haiyan, Zhang Yan

Abstract excerpt

Purpose: Prenatal phenotypic manifestations of genetic disorders associated with NSD2 variants remain poorly characterized. This study presents our institutional experience with the prenatal diagnosis of NSD2-associated genetic disorders, specifically Rauch-Steindl syndrome (RAUST), aiming to improve understanding of both the molecular and clinical features of RAUST. Methods: We performed a retrospective analysis...

Read the complete abstract on PubMed

Topics

Humans
Phenotype
Female
Genetic Association Studies
Histone-Lysine N-Methyltransferase
Repressor Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Pregnancy

Prenatal Diagnosis

Adult

Retrospective Studies

Fetal Growth Retardation

Mutation

Male

Ultrasonography, Prenatal

Microcephaly

Source

Open in PubMed Open full text

Identifiers

PMID: 42694379
DOI: 10.1155/humu/1637135
PMCID: PMC13539205

Genes

NSD2
FGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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