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CASTELLO , Raffaele

Last name: CASTELLO

First name: Raffaele

2019 (v1)

Publication

Metadata-only

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Scala, Marcello Torella, Annalaura Severino, Mariasavina

De novo DDX3X variants account for 1–3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. Furthermore, somatic DDX3X variants occur in several aggressive cancers, including medulloblastoma. We report three unrelated females with severe ID, dysmorphic features, and a common brain malformative...

Uploaded on: January 31, 2024