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

bioRxiv

Jan 21, 2015

Jason A. O'RaweGholson J. Lyon

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Abstract

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 ...read more

Mentioned in this Paper

DNA Sequence
Opitz-G Syndrome, Type 2
HNF1B protein, human
Periorbital Region
Study
Transcription Factor TFIID
Byzanthine Arch Palate
Diagnostic Tests
Whole Genome Sequencing
Structure of Palpebral Fissure
15
8
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  • A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

    bioRxiv

    Jan 21, 2015

    Jason A. O'RaweGholson J. Lyon

    PMID: 990014050

    DOI: 10.1101/014050

    Abstract

    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 ...read more

    Mentioned in this Paper

    DNA Sequence
    Opitz-G Syndrome, Type 2
    HNF1B protein, human
    Periorbital Region
    Study
    15
    8

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