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Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient

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Published in:Application of Clinical Genetics
Format: Online Article RSS Article
Published: 2026
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container_title Application of Clinical Genetics
description
discipline_display Medical Geneticsx
discipline_facet Medical Geneticsx
format Online Article
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genre Journal Article
id rss_article:62475
institution FRELIP
journal_source_facet Application of Clinical Genetics
last_indexed 2026-06-20T21:27:21.959Z
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
Medical Geneticsx
General
Medical Geneticsx
sub_discipline_display General
sub_discipline_facet General
subject_display Medical Geneticsx
General
Medical Geneticsx
subject_facet Medical Geneticsx
General
Medical Geneticsx
title Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_alt Reporte de Caso: Fenotipo Más Leve del Síndrome de Schaaf-Yang Debido a una Nueva Variante Missense Potencialmente Patogénica como Causa Inusual de Obesidad en un Paciente Pediátrico
Rapport de cas : phénotype plus léger du syndrome de Schaaf-Yang dû à un nouveau variant faux-sens potentiellement pathogène comme cause inhabituelle d'obésité chez un patient pédiatrique
Relato de Caso: Fenótipo Mais Leve da Síndrome de Schaaf-Yang Devido a uma Nova Variante Potencialmente Patogênica do Tipo Missense como Causa Incomum de Obesidade em um Paciente Pediátrico
title_auth Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_es_txt Reporte de Caso: Fenotipo Más Leve del Síndrome de Schaaf-Yang Debido a una Nueva Variante Missense Potencialmente Patogénica como Causa Inusual de Obesidad en un Paciente Pediátrico
title_fr_txt Rapport de cas : phénotype plus léger du syndrome de Schaaf-Yang dû à un nouveau variant faux-sens potentiellement pathogène comme cause inhabituelle d'obésité chez un patient pédiatrique
title_full Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_fullStr Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_full_unstemmed Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_pt_txt Relato de Caso: Fenótipo Mais Leve da Síndrome de Schaaf-Yang Devido a uma Nova Variante Potencialmente Patogênica do Tipo Missense como Causa Incomum de Obesidade em um Paciente Pediátrico
title_short Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
title_sort case report: schaaf-yang syndrome milder phenotype due to potential pathogenic novel missense variant as an unusual cause of obesity in a pediatric patient
topic Medical Geneticsx
General
Medical Geneticsx
url https://www.dovepress.com/case-report-schaaf-yang-syndrome-milder-phenotype-due-to-potential-pat-peer-reviewed-fulltext-article-TACG