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Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

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Published in:Molecular Genetics & Genomic Medicine
Format: Online Article RSS Article
Published: 2026
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container_title Molecular Genetics & Genomic Medicine
description
discipline_display Genetics
discipline_facet Genetics
format Online Article
RSS Article
genre Journal Article
id rss_article:70976
institution FRELIP
journal_source_facet Molecular Genetics & Genomic Medicine
last_indexed 2026-06-20T21:29:44.956Z
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
Genetics
General
Genetics
sub_discipline_display General
sub_discipline_facet General
subject_display Genetics
General
Genetics
subject_facet Genetics
General
Genetics
title Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_alt Identificación y análisis funcional de una nueva variante missense de NSD2 en un paciente con síndrome de Rauch-Steindl
Identification et analyse fonctionnelle d'un nouveau variant faux-sens NSD2 chez un patient atteint du syndrome de Rauch-Steindl
Identificação e Análise Funcional de uma Nova Variante Missense NSD2 em um Paciente com Síndrome de Rauch-Steindl
title_auth Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_es_txt Identificación y análisis funcional de una nueva variante missense de NSD2 en un paciente con síndrome de Rauch-Steindl
title_fr_txt Identification et analyse fonctionnelle d'un nouveau variant faux-sens NSD2 chez un patient atteint du syndrome de Rauch-Steindl
title_full Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_fullStr Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_full_unstemmed Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_pt_txt Identificação e Análise Funcional de uma Nova Variante Missense NSD2 em um Paciente com Síndrome de Rauch-Steindl
title_short Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
title_sort identification and functional analysis of a novel nsd2 missense variant in a patient with rauch‐steindl syndrome
topic Genetics
General
Genetics
url https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70238?af=R