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. (Q36108386)
Jump to navigation
Jump to search
scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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. |
scientific article |
Statements
1 reference
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. (English)
1 reference
Jacek Majewski
1 reference
Oana Caluseriu
1 reference
A Micheil Innes
1 reference
Jillian S Parboosingh
1 reference
Francois P Bernier
1 reference
P Y Billie Au
1 reference
Jing You
1 reference
Marcia Ferguson
1 reference
Care for Rare Canada Consortium
1 reference
David Valle
1 reference
Nara Sobreira
1 reference
Antonie D Kline
1 reference
14 July 2015
1 reference
1 reference
1009-1014
1 reference
1 reference
Identifiers
1 reference
1 reference
1 reference