000170111 001__ 170111
000170111 005__ 20260318155254.0
000170111 0247_ $$2doi$$a10.1111/cge.14440
000170111 0248_ $$2sideral$$a148530
000170111 037__ $$aART-2023-148530
000170111 041__ $$aeng
000170111 100__ $$aParra, Alejandro
000170111 245__ $$aGenetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
000170111 260__ $$c2023
000170111 5203_ $$aDDX3X is a multifunctional ATP-dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle control, innate immunity, apoptosis and tumorigenesis. Variants in DDX3X have been associated with a developmental disorder named intellectual developmental disorder, X-linked syndromic, Snijders Blok type (MRXSSB, MIM #300958) or DDX3X neurodevelopmental disorder (DDX3X-NDD). DDX3X-NDD is mainly characterized by intellectual disability, brain abnormalities, hypotonia and behavioral problems. Other common findings include gastrointestinal abnormalities, abnormal gait, speech delay and microcephaly. DDX3X-NDD is predominantly found in females who carry de novo variants in DDX3X. However, hemizygous pathogenic DDX3X variants have been also found in males who inherited their variants from unaffected mothers. To date, more than 200 patients have been reported in the literature. Here, we describe 34 new patients with a variant in DDX3X and reviewed 200 additional patients previously reported in the literature. 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.
000170111 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000170111 590__ $$a2.9$$b2023
000170111 591__ $$aGENETICS & HEREDITY$$b81 / 191 = 0.424$$c2023$$dQ2$$eT2
000170111 592__ $$a1.236$$b2023
000170111 593__ $$aGenetics (clinical)$$c2023$$dQ1
000170111 593__ $$aGenetics$$c2023$$dQ1
000170111 594__ $$a6.5$$b2023
000170111 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000170111 700__ $$aPascual, Patricia
000170111 700__ $$aCazalla, Mario
000170111 700__ $$aArias, Pedro
000170111 700__ $$aGallego-Zazo, Natalia
000170111 700__ $$aSan-Martín, Esteban A.
000170111 700__ $$aSilván, Cristina
000170111 700__ $$aSantos-Simarro, Fernando
000170111 700__ $$aNevado, Julián
000170111 700__ $$aTenorio-Castano, Jair
000170111 700__ $$aLapunzina, Pablo
000170111 700__ $$0(orcid)0000-0003-2832-2266$$aLabarta, José Ignacio$$uUniversidad de Zaragoza
000170111 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000170111 773__ $$g105, 2 (2023), 140-149$$pClin. genet.$$tClinical genetics$$x0009-9163
000170111 85641 $$uhttps://onlinelibrary.wiley.com/doi/10.1111/cge.14440$$zTexto completo de la revista
000170111 8564_ $$s1306416$$uhttps://zaguan.unizar.es/record/170111/files/texto_completo.pdf$$yVersión publicada
000170111 8564_ $$s2277052$$uhttps://zaguan.unizar.es/record/170111/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000170111 909CO $$ooai:zaguan.unizar.es:170111$$particulos$$pdriver
000170111 951__ $$a2026-03-18-13:52:32
000170111 980__ $$aARTICLE