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

Tarih

Yazarlar

Parra, Alejandro

Pascual, Patricia

Gallego\\-Zazo, Natalia

Santana, Alfredo

Arroyo, Ignacio

DOI No

10.3390/genes14061179

Diğer Tanımlayıcı No

WOS:001017268700001

Yayınevi

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

Koleksiyonlar

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