Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
| dc.contributor.author | Parra, Alejandro | |
| dc.contributor.author | Rabin, Rachel | |
| dc.contributor.author | Pappas, John | |
| dc.contributor.author | Pascual, Patricia | |
| dc.contributor.author | Cazalla, Mario | |
| dc.contributor.author | Arias, Pedro | |
| dc.contributor.author | Gallego\\-Zazo, Natalia | |
| dc.contributor.author | Santana, Alfredo | |
| dc.contributor.author | Arroyo, Ignacio | |
| dc.contributor.author | Artigas, Merce | |
| dc.contributor.author | Pachajoa, Harry | |
| dc.contributor.author | Alanay, Yasemin | |
| dc.contributor.author | Akgun\\-Dogan, Ozlem | |
| dc.contributor.author | Ruaud, Lyse | |
| dc.contributor.author | Couque, Nathalie | |
| dc.contributor.author | Levy, Jonathan | |
| dc.contributor.author | Porras\\-Hurtado, Gloria Liliana | |
| dc.contributor.author | Santos\\-Simarro, Fernando | |
| dc.contributor.author | Ballesta\\-Martinez, Maria Juliana | |
| dc.contributor.author | Guillen\\-Navarro, Encarna | |
| dc.contributor.author | Munoz\\-Hernandez, Hugo | |
| dc.contributor.author | Nevado, Julian | |
| dc.contributor.author | Tenorio\\-Castano, Jair | |
| dc.contributor.author | Lapunzina, Pablo | |
| dc.contributor.author | Spanish OverGrowth Registry | |
| dc.date.accessioned | 2025-10-16T15:15:13Z | |
| dc.date.issued | 2023 | |
| dc.identifier.doi | 10.3390/genes14061179 | |
| dc.identifier.other | WOS:001017268700001 | |
| dc.identifier.uri | https://openaccess.acibadem.edu.tr/handle/11443/6407 | |
| dc.publisher | MDPI | |
| dc.source | GENES | |
| dc.subject | SETD2 | |
| dc.subject | Luscan\\-Lumish syndrome | |
| dc.subject | Rabin\\-Pappas syndrome | |
| dc.subject | intellectual developmental disorder | |
| dc.subject | autosomal dominant 70 | |
| dc.subject | overgrowth | |
| dc.subject | intellectual disability | |
| dc.subject | autism spectrum disorder | |
| dc.subject | MRD70 | |
| dc.subject | LLS | |
| dc.subject | RAPAS | |
| dc.title | Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature | |
| dc.type | Review |
