Article
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes - 29 May 2023
Parra Alejandro, Rabin Rachel, Pappas John, Pascual Patricia, Cazalla Mario, Arias Pedro, Gallego-Zazo Natalia, Santana Alfredo, Arroyo Ignacio, Artigas Mercè, Pachajoa Harry, Alanay Yasemin, Akgun-Dogan Ozlem, Ruaud Lyse, Couque Nathalie, Levy Jonathan, Porras-Hurtado Gloria Liliana, Santos-Simarro Fernando, Ballesta-Martinez Maria Juliana, Guillén-Navarro Encarna, Muñoz-Hernández Hugo, Nevado Julián, Spanish OverGrowth Registry Initiative, Tenorio-Castano Jair, Lapunzina Pablo
Abstract excerpt
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, autosomal dominant 70 (MRD70), and Rabin-Pappas syndrome (RAPAS). LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual...
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