Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

• Main Authors: Sahand Tehrani Fateh (Author), Nadia Mohammad Zadeh (Author), Shadab Salehpour (Author), Farzad Hashemi-Gorji (Author), Ashkan Omidi (Author), Hossein Sadeghi (Author), Reza Mirfakhraie (Author), Parinaz Moghimi (Author), Sepideh Keyvanfar (Author), Sepideh Mohammadi Sarvaleh (Author), Mohammad Miryounesi (Author), Mohammad-Reza Ghasemi (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases of CdLS with distinct phenotypes that...