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.
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| Description | scientific article |
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author: Oana Caluseriu Jeremy Schwartzentruber Jacek Majewski A. Micheil Innes François P. Bernier Jillian S Parboosingh |
| Publication date | July 14, 2015 |
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| Missing/wrong data? | Edit Wikidata item |