De-Yue Li

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis

This case expands the spectrum of splice-altering NF1 variants and reveals a previously uncharacterized molecular mechanism underlying segmental neurofibromatosis, providing functional evidence that NF1 c.7970+4_7970+7del is a splice-disrupting variant with pathogenic relevance in the context of segmental neurofibromat...