TY  - GEN
AU  - Parra, Alejandro
AU  - Rabin, Rachel
AU  - Pappas, John
AU  - Pascual, Patricia
AU  - Cazalla, Mario
AU  - Arias, Pedro
AU  - Gallego-Zazo, Natalia
AU  - Santana, Alfredo
AU  - Arroyo, Ignacio
AU  - Artigas, Mercè
AU  - Pachajoa, Harry
AU  - Alanay, Yasemin
AU  - Akgun-Dogan, Ozlem
AU  - Ruaud, Lyse
AU  - Couque, Nathalie
AU  - Levy, Jonathan
AU  - Porras-Hurtado, Gloria Liliana
AU  - Santos-Simarro, Fernando
AU  - Ballesta-Martinez, Maria Juliana
AU  - Guillén-Navarro, Encarna
AU  - Muñoz-Hernández, Hugo
AU  - Nevado, Julián
AU  - Spanish OverGrowth Registry Initiative
AU  - Tenorio-Castano, Jair
AU  - Lapunzina, Pablo
PY  - 2023
DO  - 10.3390/genes14061179
UR  - https://hdl.handle.net/20.500.12105/23617
AB  - SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual developmental disorder,...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Phenotype
KW  - Muscle Hypotonia
KW  - Autism Spectrum Disorder
KW  - Intellectual Disability
KW  - Humans
KW  - Syndrome
TI  - Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
TY  - research article
ER  -