Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

dc.contributor.authorParra, Alejandro
dc.contributor.authorRabin, Rachel
dc.contributor.authorPappas, John
dc.contributor.authorPascual, Patricia
dc.contributor.authorCazalla, Mario
dc.contributor.authorArias, Pedro
dc.contributor.authorGallego\\-Zazo, Natalia
dc.contributor.authorSantana, Alfredo
dc.contributor.authorArroyo, Ignacio
dc.contributor.authorArtigas, Merce
dc.contributor.authorPachajoa, Harry
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorAkgun\\-Dogan, Ozlem
dc.contributor.authorRuaud, Lyse
dc.contributor.authorCouque, Nathalie
dc.contributor.authorLevy, Jonathan
dc.contributor.authorPorras\\-Hurtado, Gloria Liliana
dc.contributor.authorSantos\\-Simarro, Fernando
dc.contributor.authorBallesta\\-Martinez, Maria Juliana
dc.contributor.authorGuillen\\-Navarro, Encarna
dc.contributor.authorMunoz\\-Hernandez, Hugo
dc.contributor.authorNevado, Julian
dc.contributor.authorTenorio\\-Castano, Jair
dc.contributor.authorLapunzina, Pablo
dc.contributor.authorSpanish OverGrowth Registry
dc.date.accessioned2025-10-16T15:15:13Z
dc.date.issued2023
dc.identifier.doi10.3390/genes14061179
dc.identifier.otherWOS:001017268700001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6407
dc.publisherMDPI
dc.sourceGENES
dc.subjectSETD2
dc.subjectLuscan\\-Lumish syndrome
dc.subjectRabin\\-Pappas syndrome
dc.subjectintellectual developmental disorder
dc.subjectautosomal dominant 70
dc.subjectovergrowth
dc.subjectintellectual disability
dc.subjectautism spectrum disorder
dc.subjectMRD70
dc.subjectLLS
dc.subjectRAPAS
dc.titleClinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
dc.typeReview

Dosyalar

Koleksiyonlar