Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases. - Tehrani Fateh, Sahand; Mohammad Zadeh, Nadia; Salehpour, Shadab; Hashemi-Gorji, Farzad; Omidi, Ashkan; Sadeghi, Hossein; Mirfakhraie, Reza; Moghimi, Parinaz; Keyvanfar, Sepideh; Mohammadi Sarvaleh, Sepideh; Miryounesi, Mohammad; Ghasemi, Mohammad-Reza (BMC Medical Genomics, 2024)