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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
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 proband...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4589226/ https://ncbi.nlm.nih.gov/pubmed/26173930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22837 |
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