Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family

• Main Authors: Zaka, Ayesha, Yousaf, Maha, Shahzad, Shaheen, Rao, Hadi Zahid, Foo, Jia Nee, Siddiqi, Saima
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Skeletal Dysplasia; Exome Sequencing
• Online Access: https://hdl.handle.net/10356/171780
• Institution: Nanyang Technological University

3M syndrome is a rare genetic familial disorder characterized by short stature, growth retardation, facial dysmorphism, skeletal abnormalities, fleshy protruding heels, and normal intelligence, caused by mutations in the CUL7, OBSL1 and CCDC8 genes. In the present study, a novel homozygous missense...