Article

A variant in <i>TAF1</i> is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

2015-01-21

Abstract excerpt

We describe the discovery of a new genetic syndrome, RykDax syndrome, driven by a whole genome sequencing (WGS) study of one family from Utah with two affected male brothers, presenting with severe intellectual disability (ID), a characteristic intergluteal crease, and very distinctive facial features including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridge...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c7483441-d96c-5721-9be0-dc7846ffb106
DOI: 10.1101/014050

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A variant in <i>TAF1</i> is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic featuresDOI 10.1101/014050Read

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.Semantic proximity Read

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersSemantic proximity Read

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disabilitySemantic proximity Read

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.Semantic proximity Read

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.Semantic proximity Read

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.Semantic proximity Read

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Semantic proximity Read

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.Semantic proximity Read

Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.Semantic proximity Read

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.Semantic proximity Read

Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.Semantic proximity Read

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed programSemantic proximity Read