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The presence of well-defined hypoechoic masses in the dermis (cutaneous neurofibromas in the dermis), irregular dermohypodermal regions (diffuse subcutaneous neurofibromas), or regions with oval or beaded morphology (subcutaneous nodular neurofibromas) is characteristic in subcutaneous cell tissue, with the intralesional Doppler images of showing tenuous or absent vascularization (Fig

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These findings align with clinical observations in humans, where biallelic CNTNAP2 variants are linked to severe cognitive impairment, epilepsy, and behavioral abnormalities, underscoring its role in ASD pathogenesis (101)