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

• Autors principals: Sahand Tehrani Fateh (Autor), Nadia Mohammad Zadeh (Autor), Shadab Salehpour (Autor), Farzad Hashemi-Gorji (Autor), Ashkan Omidi (Autor), Hossein Sadeghi (Autor), Reza Mirfakhraie (Autor), Parinaz Moghimi (Autor), Sepideh Keyvanfar (Autor), Sepideh Mohammadi Sarvaleh (Autor), Mohammad Miryounesi (Autor), Mohammad-Reza Ghasemi (Autor)
• Format: Llibre
• Publicat: BMC, 2024-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...