Article
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Human mutation - 1 Oct 2015
Au P Y Billie, You Jing, Caluseriu Oana, Schwartzentruber Jeremy, Majewski Jacek, Bernier Francois P, Ferguson Marcia, Valle David, Parboosingh Jillian S, Sobreira Nara, Innes A Micheil, Kline Antonie D
Abstract excerpt
We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual disability, a shared unique craniofacial phenotype, and connective tissue and skeletal...
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