Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome

Arwa Babai(Guy's and St Thomas' NHS Foundation Trust), Cristina Dias(Great Ormond Street Hospital for Children NHS Foundation Trust)
npj Genomic Medicine
October 21, 2025
10.1038/s41525-025-00513-4
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