Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome.
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| Title: | Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome. |
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| Authors: | Mittal, Payal1 (AUTHOR) payalmittal41298@gmail.com, Singh, Ritika1 (AUTHOR) ritika16singh@gmail.com, Bhalla, Kapil1 (AUTHOR) drkapilbhalla@gmail.com |
| Source: | Journal of Rare Diseases. 4/23/2026, Vol. 5 Issue 1, p1-4. 4p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 2731085X |
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| DOI: | 10.1007/s44162-026-00172-8 |
