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

Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego\\-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Merce; Pachajoa, Harry; Alanay, Yasemin; Akgun\\-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras\\-Hurtado, Gloria Liliana; Santos\\-Simarro, Fernando; Ballesta\\-Martinez, Maria Juliana; Guillen\\-Navarro, Encarna; Munoz\\-Hernandez, Hugo; Nevado, Julian; Tenorio\\-Castano, Jair; Lapunzina, Pablo; Spanish OverGrowth Registry

doi:10.3390/genes14061179

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

Tarih

2023

Yazarlar

Parra, Alejandro

Rabin, Rachel

Pappas, John

Pascual, Patricia

Cazalla, Mario

Arias, Pedro

Gallego\\-Zazo, Natalia

Santana, Alfredo

Arroyo, Ignacio

Artigas, Merce

DOI No

10.3390/genes14061179

Diğer Tanımlayıcı No

WOS:001017268700001

Yayınevi

MDPI

Anahtar kelimeler

SETD2, Luscan\\-Lumish syndrome, Rabin\\-Pappas syndrome, intellectual developmental disorder, autosomal dominant 70, overgrowth, intellectual disability, autism spectrum disorder, MRD70, LLS, RAPAS

URI

https://openaccess.acibadem.edu.tr/handle/11443/6407

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WOS

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

Tarih

Yazarlar

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