Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

This article describes 34 additional patients to those already reported, contributing with 25 novel variants and a deep phenotypic characterization. A clinical review of our cohort of DDX3X-NDD patients is performed comparing them to those previously published.PMID:37904618 | DOI:10.1111/cge.14440

Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Alejandro Parra Patricia Pascual Mario Cazalla Pedro Arias Natalia Gallego-Zazo Esteban A San-Mart ín Cristina Silv án Fernando Santos-Simarro Spanish OverGrowth Registry Initiative (SOGRI) Juli án Nevado Jair Tenorio-Castano Pablo Lapunzina Source Type: research