DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual...

ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the DDX3X gene. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp...

X-linked syndromes include intellectual disability as part of the presentation. These include: Coffin–Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication...

de novo mutations in a set of genes. Mutations in three of these genes (DDX3X, TLK2 and HDAC8) were shared with those found in databases of individuals...

sequential mutations of the RNA helicases (involved in RNA synthesis) DDX3X (found on the x chromosome) and DDX3Y (found on the y chromosome) lead to...

the RNA helicase DDX3X. The 5' UTR of MITF contains important regulatory elements (IRES) that is recognized, bound and activated by DDX3X. Although, the...

males are born two Xs and a Y ("XXY", see Klinefelter syndrome), one X and two Ys (see XYY syndrome). Some females have three Xs (Trisomy X), and some have...

CHD3, CHD4, CHD5, CHD6, CHD7, CHD8, CHD9 DEAD box/DEAD/DEAH box helicase: DDX3X, DDX5, DDX6, DDX10, DDX11, DDX12, DDX58, DHX8, DHX9, DHX37, DHX40, DHX58...

are also seen in Gorlin syndrome as well as Turcot syndrome. Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1...

has a homolog on the X chromosome (DDX3X). The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting...