Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report
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DOI: 10.1186/s13052-025-02054-z
Abstract: Polygenic mutations play a significant role in the etiology of various growth-related disorders and bone deformities, influencing multiple physiological processes. Understanding the impact of polygenic mutations is crucial for the diagnosis, genetic counseling, and management… read more here.
Keywords: short stature; case; plec cd96; severe short ... See more keywords